Canonical Allele Identifier: CA180802

Gene: TAFAZZIN DNASE1L1

Linked Data

• ClinVar Variation Id: 177806
• ClinVar RCV Id: RCV000154436
• dbSNP Id: rs727504330
• gnomAD v4: X-154411827-C-T
• MyVariant Identifiers: chrX:g.153640164C>T (hg19) ; chrX:g.154411827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154411827C>T , CM000685.2:g.154411827C>T	GRCh38
NC_000023.10:g.153640164C>T , CM000685.1:g.153640164C>T	GRCh37
NC_000023.9:g.153293358C>T	NCBI36
NG_009634.1:g.5288C>T
NG_012884.2:g.5262G>A
NG_009634.2:g.5293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.279C>T (TAFAZZIN)
ENST00000475699.6:c.-17C>T (TAFAZZIN)	ENSP00000419854.3:n.-17C>T
ENST00000601016.6:c.-17C>T (TAFAZZIN) MANE Select	ENSP00000469981.1:n.-17C>T
ENST00000612012.5:c.-17C>T (TAFAZZIN)	ENSP00000482070.2:n.-17C>T
ENST00000612460.5:c.-17C>T (TAFAZZIN)	ENSP00000481037.1:n.-17C>T
ENST00000614595.2:n.209C>T (TAFAZZIN)
ENST00000615658.5:n.243C>T (TAFAZZIN)
ENST00000617701.5:c.-17C>T (TAFAZZIN)	ENSP00000481645.1:n.-17C>T
ENST00000621647.2:n.37C>T (TAFAZZIN)
ENST00000652476.1:n.145C>T (TAFAZZIN)
ENST00000652682.1:c.-17C>T (TAFAZZIN)	ENSP00000498288.1:n.-17C>T
ENST00000652685.1:n.36C>T (TAFAZZIN)
ENST00000309585.9:c.-173+64G>A (DNASE1L1)	ENSP00000309168.5:n.-173+64G>A
ENST00000369776.8:c.-17C>T (TAFAZZIN)	ENSP00000358791.4:n.-17C>T
ENST00000369809.5:c.-431+64G>A (DNASE1L1)	ENSP00000358824.1:n.-431+64G>A
ENST00000393638.5:c.-88+64G>A (DNASE1L1)	ENSP00000377255.1:n.-88+64G>A
ENST00000424626.5:c.-431+64G>A (DNASE1L1)	ENSP00000393000.1:n.-431+64G>A
ENST00000432135.1:c.-569+64G>A (DNASE1L1)	ENSP00000410281.1:n.-569+64G>A
ENST00000451865.5:c.-88+64G>A (DNASE1L1)	ENSP00000393346.1:n.-88+64G>A
ENST00000475699.5:c.-17C>T (TAFAZZIN)	ENSP00000419854.2:n.-17C>T
ENST00000601016.5:c.-17C>T (TAFAZZIN)	ENSP00000469981.1:n.-17C>T
ENST00000612012.4:c.-17C>T (TAFAZZIN)	ENSP00000482070.1:n.-17C>T
ENST00000612460.4:c.-17C>T (TAFAZZIN)	ENSP00000481037.1:n.-17C>T
ENST00000613002.4:c.-17C>T (TAFAZZIN)	ENSP00000478154.1:n.-17C>T
ENST00000613634.4:n.304C>T (TAFAZZIN)
ENST00000614595.1:n.203C>T (TAFAZZIN)
ENST00000615658.4:n.310C>T (TAFAZZIN)
ENST00000615986.4:c.-17C>T (TAFAZZIN)	ENSP00000480133.1:n.-17C>T
ENST00000616020.4:c.-17C>T (TAFAZZIN)	ENSP00000483636.1:n.-17C>T
ENST00000617701.4:c.-17C>T (TAFAZZIN)	ENSP00000481645.1:n.-17C>T
ENST00000620808.4:c.-17C>T (TAFAZZIN)	ENSP00000479311.1:n.-17C>T
ENST00000621647.1:n.269C>T (TAFAZZIN)
NM_000116.4:c.-17C>T (TAFAZZIN)	NP_000107.1:n.-17C>T
NM_001009932.2:c.-431+64G>A (DNASE1L1)	NP_001009932.1:n.-431+64G>A
NM_001009933.2:c.-173+64G>A (DNASE1L1)	NP_001009933.1:n.-173+64G>A
NM_001009934.2:c.-88+64G>A (DNASE1L1)	NP_001009934.1:n.-88+64G>A
NM_001303465.1:c.-17C>T (TAFAZZIN)	NP_001290394.1:n.-17C>T
NM_181311.3:c.-17C>T (TAFAZZIN)	NP_851828.1:n.-17C>T
NM_181312.3:c.-17C>T (TAFAZZIN)	NP_851829.1:n.-17C>T
NM_181313.3:c.-17C>T (TAFAZZIN)	NP_851830.1:n.-17C>T
NR_024048.2:n.310C>T (TAFAZZIN)
XM_005277829.3:c.-569+64G>A (DNASE1L1)	XP_005277886.1:n.-569+64G>A
XM_006724836.1:c.-17C>T (TAFAZZIN)	XP_006724899.1:n.-17C>T
XM_006724837.1:c.-17C>T (TAFAZZIN)	XP_006724900.1:n.-17C>T
XM_006724839.1:c.-17C>T (TAFAZZIN)	XP_006724902.1:n.-17C>T
XM_011531189.1:c.-17C>T (TAFAZZIN)	XP_011529491.1:n.-17C>T
XR_938511.1:n.287C>T (TAFAZZIN)
XM_005277829.4:c.-569+64G>A (DNASE1L1)	XP_005277886.1:n.-569+64G>A
XM_006724841.4:c.-311C>T (TAFAZZIN)	XP_006724904.1:n.-311C>T
XM_006724842.4:c.-311C>T (TAFAZZIN)	XP_006724905.1:n.-311C>T
XM_017029332.1:c.-1627+64G>A (DNASE1L1)	XP_016884821.1:n.-1627+64G>A
XM_017029761.1:c.-17C>T (TAFAZZIN)	XP_016885250.1:n.-17C>T
XM_017029762.1:c.-17C>T (TAFAZZIN)	XP_016885251.1:n.-17C>T
XM_017029763.1:c.-17C>T (TAFAZZIN)	XP_016885252.1:n.-17C>T
XM_017029765.2:c.-311C>T (TAFAZZIN)	XP_016885254.1:n.-311C>T
XM_024452431.1:c.-17C>T (TAFAZZIN)	XP_024308199.1:n.-17C>T
NM_000116.5:c.-17C>T (TAFAZZIN) MANE Select	NP_000107.1:n.-17C>T
NM_001009933.3:c.-173+64G>A (DNASE1L1)	NP_001009933.1:n.-173+64G>A
NM_001303465.2:c.-17C>T (TAFAZZIN)	NP_001290394.1:n.-17C>T
NM_181311.4:c.-17C>T (TAFAZZIN)	NP_851828.1:n.-17C>T
NM_181312.4:c.-17C>T (TAFAZZIN)	NP_851829.1:n.-17C>T
NM_181313.4:c.-17C>T (TAFAZZIN)	NP_851830.1:n.-17C>T
NR_024048.3:n.289C>T (TAFAZZIN)
NM_001009932.3:c.-431+64G>A (DNASE1L1)	NP_001009932.1:n.-431+64G>A
NM_001009934.3:c.-88+64G>A (DNASE1L1)	NP_001009934.1:n.-88+64G>A