Canonical Allele Identifier: CA519277351

Gene: TAFAZZIN DNASE1L1

Linked Data

• MyVariant Identifiers: chrX:g.153640433C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412096C>T , CM000685.2:g.154412096C>T	GRCh38
NC_000023.10:g.153640433C>T , CM000685.1:g.153640433C>T	GRCh37
NC_000023.9:g.153293627C>T	NCBI36
NG_009634.1:g.5557C>T
NG_012884.2:g.4993G>A
NG_009634.2:g.5562C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.548C>T (TAFAZZIN)
ENST00000698235.1:n.107C>T (TAFAZZIN)
ENST00000698317.1:n.82C>T (TAFAZZIN)
ENST00000475699.6:c.174C>T (TAFAZZIN)	ENSP00000419854.3:p.Asn58=
ENST00000476800.2:n.85C>T (TAFAZZIN)
ENST00000483674.3:n.11C>T (TAFAZZIN)
ENST00000601016.6:c.120C>T (TAFAZZIN) MANE Select	ENSP00000469981.1:p.Asn40=
ENST00000612012.5:c.120C>T (TAFAZZIN)	ENSP00000482070.2:p.Asn40=
ENST00000612460.5:c.120C>T (TAFAZZIN)	ENSP00000481037.1:p.Asn40=
ENST00000614595.2:n.478C>T (TAFAZZIN)
ENST00000615658.5:n.433C>T (TAFAZZIN)
ENST00000616020.5:c.174C>T (TAFAZZIN)	ENSP00000483636.2:p.Asn58=
ENST00000617701.5:c.120C>T (TAFAZZIN)	ENSP00000481645.1:p.Asn40=
ENST00000621647.2:n.173C>T (TAFAZZIN)
ENST00000652358.1:c.-57+144C>T (TAFAZZIN)	ENSP00000498464.1:n.-57+144C>T
ENST00000652390.1:c.39C>T (TAFAZZIN)	ENSP00000498858.1:p.Asn13=
ENST00000652476.1:n.281C>T (TAFAZZIN)
ENST00000652682.1:c.120C>T (TAFAZZIN)	ENSP00000498288.1:p.Asn40=
ENST00000652685.1:n.172C>T (TAFAZZIN)
ENST00000309585.9:c.-378G>A (DNASE1L1)	ENSP00000309168.5:n.-378G>A
ENST00000369776.8:c.163+90C>T (TAFAZZIN)	ENSP00000358791.4:n.163+90C>T
ENST00000439735.2:c.120C>T (TAFAZZIN)	ENSP00000398193.1:p.Asn40=
ENST00000475699.5:c.120C>T (TAFAZZIN)	ENSP00000419854.2:p.Asn40=
ENST00000601016.5:c.120C>T (TAFAZZIN)	ENSP00000469981.1:p.Asn40=
ENST00000612012.4:c.174C>T (TAFAZZIN)	ENSP00000482070.1:p.Asn58=
ENST00000612460.4:c.120C>T (TAFAZZIN)	ENSP00000481037.1:p.Asn40=
ENST00000613002.4:c.120C>T (TAFAZZIN)	ENSP00000478154.1:p.Asn40=
ENST00000613634.4:n.440C>T (TAFAZZIN)
ENST00000614595.1:n.339C>T (TAFAZZIN)
ENST00000615658.4:n.446C>T (TAFAZZIN)
ENST00000615986.4:c.120C>T (TAFAZZIN)	ENSP00000480133.1:p.Asn40=
ENST00000616020.4:c.174C>T (TAFAZZIN)	ENSP00000483636.1:p.Asn58=
ENST00000617701.4:c.120C>T (TAFAZZIN)	ENSP00000481645.1:p.Asn40=
ENST00000620808.4:c.120C>T (TAFAZZIN)	ENSP00000479311.1:p.Asn40=
ENST00000621647.1:n.405C>T (TAFAZZIN)
NM_000116.4:c.120C>T (TAFAZZIN)	NP_000107.1:p.Asn40=
NM_001303465.1:c.174C>T (TAFAZZIN)	NP_001290394.1:p.Asn58=
NM_181311.3:c.120C>T (TAFAZZIN)	NP_851828.1:p.Asn40=
NM_181312.3:c.120C>T (TAFAZZIN)	NP_851829.1:p.Asn40=
NM_181313.3:c.120C>T (TAFAZZIN)	NP_851830.1:p.Asn40=
NR_024048.2:n.446C>T (TAFAZZIN)
XM_006724836.1:c.174C>T (TAFAZZIN)	XP_006724899.1:p.Asn58=
XM_006724837.1:c.174C>T (TAFAZZIN)	XP_006724900.1:p.Asn58=
XM_006724839.1:c.174C>T (TAFAZZIN)	XP_006724902.1:p.Asn58=
XM_006724841.2:c.-175C>T (TAFAZZIN)	XP_006724904.1:n.-175C>T
XM_006724842.2:c.-175C>T (TAFAZZIN)	XP_006724905.1:n.-175C>T
XM_011531189.1:c.174C>T (TAFAZZIN)	XP_011529491.1:p.Asn58=
XR_938511.1:n.477C>T (TAFAZZIN)
XM_006724841.4:c.-175C>T (TAFAZZIN)	XP_006724904.1:n.-175C>T
XM_006724842.4:c.-175C>T (TAFAZZIN)	XP_006724905.1:n.-175C>T
XM_017029332.1:c.-1832G>A (DNASE1L1)	XP_016884821.1:n.-1832G>A
XM_017029761.1:c.120C>T (TAFAZZIN)	XP_016885250.1:p.Asn40=
XM_017029762.1:c.174C>T (TAFAZZIN)	XP_016885251.1:p.Asn58=
XM_017029763.1:c.120C>T (TAFAZZIN)	XP_016885252.1:p.Asn40=
XM_017029765.2:c.-175C>T (TAFAZZIN)	XP_016885254.1:n.-175C>T
XM_024452431.1:c.174C>T (TAFAZZIN)	XP_024308199.1:p.Asn58=
NM_000116.5:c.120C>T (TAFAZZIN) MANE Select	NP_000107.1:p.Asn40=
NM_001009933.3:c.-378G>A (DNASE1L1)	NP_001009933.1:n.-378G>A
NM_001303465.2:c.174C>T (TAFAZZIN)	NP_001290394.1:p.Asn58=
NM_181311.4:c.120C>T (TAFAZZIN)	NP_851828.1:p.Asn40=
NM_181312.4:c.120C>T (TAFAZZIN)	NP_851829.1:p.Asn40=
NM_181313.4:c.120C>T (TAFAZZIN)	NP_851830.1:p.Asn40=
NR_024048.3:n.425C>T (TAFAZZIN)
NM_001009932.3:c.-636G>A (DNASE1L1)	NP_001009932.1:n.-636G>A
NM_001009934.3:c.-293G>A (DNASE1L1)	NP_001009934.1:n.-293G>A