Canonical Allele Identifier: CA415179292

Gene: TAFAZZIN DNASE1L1

Linked Data

• MyVariant Identifiers: chrX:g.153640424G>C (hg19) ; chrX:g.154412087G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412087G>C , CM000685.2:g.154412087G>C	GRCh38
NC_000023.10:g.153640424G>C , CM000685.1:g.153640424G>C	GRCh37
NC_000023.9:g.153293618G>C	NCBI36
NG_009634.1:g.5548G>C
NG_012884.2:g.5002C>G
NG_009634.2:g.5553G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.539G>C (TAFAZZIN)
ENST00000698235.1:n.98G>C (TAFAZZIN)
ENST00000698317.1:n.73G>C (TAFAZZIN)
ENST00000475699.6:c.165G>C (TAFAZZIN)	ENSP00000419854.3:p.Glu55Asp
ENST00000476800.2:n.76G>C (TAFAZZIN)
ENST00000483674.3:n.2G>C (TAFAZZIN)
ENST00000601016.6:c.111G>C (TAFAZZIN) MANE Select	ENSP00000469981.1:p.Lys37Asn
ENST00000612012.5:c.111G>C (TAFAZZIN)	ENSP00000482070.2:p.Lys37Asn
ENST00000612460.5:c.111G>C (TAFAZZIN)	ENSP00000481037.1:p.Lys37Asn
ENST00000614595.2:n.469G>C (TAFAZZIN)
ENST00000615658.5:n.424G>C (TAFAZZIN)
ENST00000616020.5:c.165G>C (TAFAZZIN)	ENSP00000483636.2:p.Glu55Asp
ENST00000617701.5:c.111G>C (TAFAZZIN)	ENSP00000481645.1:p.Lys37Asn
ENST00000621647.2:n.164G>C (TAFAZZIN)
ENST00000652358.1:c.-57+135G>C (TAFAZZIN)	ENSP00000498464.1:n.-57+135G>C
ENST00000652390.1:c.30G>C (TAFAZZIN)	ENSP00000498858.1:p.Glu10Asp
ENST00000652476.1:n.272G>C (TAFAZZIN)
ENST00000652682.1:c.111G>C (TAFAZZIN)	ENSP00000498288.1:p.Lys37Asn
ENST00000652685.1:n.163G>C (TAFAZZIN)
ENST00000309585.9:c.-369C>G (DNASE1L1)	ENSP00000309168.5:n.-369C>G
ENST00000369776.8:c.163+81G>C (TAFAZZIN)	ENSP00000358791.4:n.163+81G>C
ENST00000369809.5:c.-627C>G (DNASE1L1)	ENSP00000358824.1:n.-627C>G
ENST00000393638.5:c.-284C>G (DNASE1L1)	ENSP00000377255.1:n.-284C>G
ENST00000424626.5:c.-627C>G (DNASE1L1)	ENSP00000393000.1:n.-627C>G
ENST00000432135.1:c.-765C>G (DNASE1L1)	ENSP00000410281.1:n.-765C>G
ENST00000439735.2:c.111G>C (TAFAZZIN)	ENSP00000398193.1:p.Lys37Asn
ENST00000475699.5:c.111G>C (TAFAZZIN)	ENSP00000419854.2:p.Lys37Asn
ENST00000601016.5:c.111G>C (TAFAZZIN)	ENSP00000469981.1:p.Lys37Asn
ENST00000612012.4:c.165G>C (TAFAZZIN)	ENSP00000482070.1:p.Glu55Asp
ENST00000612460.4:c.111G>C (TAFAZZIN)	ENSP00000481037.1:p.Lys37Asn
ENST00000613002.4:c.111G>C (TAFAZZIN)	ENSP00000478154.1:p.Lys37Asn
ENST00000613634.4:n.431G>C (TAFAZZIN)
ENST00000614595.1:n.330G>C (TAFAZZIN)
ENST00000615658.4:n.437G>C (TAFAZZIN)
ENST00000615986.4:c.111G>C (TAFAZZIN)	ENSP00000480133.1:p.Lys37Asn
ENST00000616020.4:c.165G>C (TAFAZZIN)	ENSP00000483636.1:p.Glu55Asp
ENST00000617701.4:c.111G>C (TAFAZZIN)	ENSP00000481645.1:p.Lys37Asn
ENST00000620808.4:c.111G>C (TAFAZZIN)	ENSP00000479311.1:p.Lys37Asn
ENST00000621647.1:n.396G>C (TAFAZZIN)
NM_000116.4:c.111G>C (TAFAZZIN)	NP_000107.1:p.Lys37Asn
NM_001009932.2:c.-627C>G (DNASE1L1)	NP_001009932.1:n.-627C>G
NM_001009933.2:c.-369C>G (DNASE1L1)	NP_001009933.1:n.-369C>G
NM_001009934.2:c.-284C>G (DNASE1L1)	NP_001009934.1:n.-284C>G
NM_001303465.1:c.165G>C (TAFAZZIN)	NP_001290394.1:p.Glu55Asp
NM_181311.3:c.111G>C (TAFAZZIN)	NP_851828.1:p.Lys37Asn
NM_181312.3:c.111G>C (TAFAZZIN)	NP_851829.1:p.Lys37Asn
NM_181313.3:c.111G>C (TAFAZZIN)	NP_851830.1:p.Lys37Asn
NR_024048.2:n.437G>C (TAFAZZIN)
XM_006724836.1:c.165G>C (TAFAZZIN)	XP_006724899.1:p.Glu55Asp
XM_006724837.1:c.165G>C (TAFAZZIN)	XP_006724900.1:p.Glu55Asp
XM_006724839.1:c.165G>C (TAFAZZIN)	XP_006724902.1:p.Glu55Asp
XM_006724841.2:c.-184G>C (TAFAZZIN)	XP_006724904.1:n.-184G>C
XM_006724842.2:c.-184G>C (TAFAZZIN)	XP_006724905.1:n.-184G>C
XM_011531189.1:c.165G>C (TAFAZZIN)	XP_011529491.1:p.Glu55Asp
XR_938511.1:n.468G>C (TAFAZZIN)
XM_005277829.4:c.-765C>G (DNASE1L1)	XP_005277886.1:n.-765C>G
XM_006724841.4:c.-184G>C (TAFAZZIN)	XP_006724904.1:n.-184G>C
XM_006724842.4:c.-184G>C (TAFAZZIN)	XP_006724905.1:n.-184G>C
XM_017029332.1:c.-1823C>G (DNASE1L1)	XP_016884821.1:n.-1823C>G
XM_017029761.1:c.111G>C (TAFAZZIN)	XP_016885250.1:p.Lys37Asn
XM_017029762.1:c.165G>C (TAFAZZIN)	XP_016885251.1:p.Glu55Asp
XM_017029763.1:c.111G>C (TAFAZZIN)	XP_016885252.1:p.Lys37Asn
XM_017029765.2:c.-184G>C (TAFAZZIN)	XP_016885254.1:n.-184G>C
XM_024452431.1:c.165G>C (TAFAZZIN)	XP_024308199.1:p.Glu55Asp
NM_000116.5:c.111G>C (TAFAZZIN) MANE Select	NP_000107.1:p.Lys37Asn
NM_001009933.3:c.-369C>G (DNASE1L1)	NP_001009933.1:n.-369C>G
NM_001303465.2:c.165G>C (TAFAZZIN)	NP_001290394.1:p.Glu55Asp
NM_181311.4:c.111G>C (TAFAZZIN)	NP_851828.1:p.Lys37Asn
NM_181312.4:c.111G>C (TAFAZZIN)	NP_851829.1:p.Lys37Asn
NM_181313.4:c.111G>C (TAFAZZIN)	NP_851830.1:p.Lys37Asn
NR_024048.3:n.416G>C (TAFAZZIN)
NM_001009932.3:c.-627C>G (DNASE1L1)	NP_001009932.1:n.-627C>G
NM_001009934.3:c.-284C>G (DNASE1L1)	NP_001009934.1:n.-284C>G