Canonical Allele Identifier: CA10653864

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 368087
• ClinVar RCV Id: RCV000307696 ; RCV000350806 ; RCV000395947 ; RCV000402701 ; RCV000841319
• dbSNP Id: rs1057515818
• gnomAD v4: X-154419586-G-A
• MyVariant Identifiers: chrX:g.153647925G>A (hg19) ; chrX:g.154419586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419586G>A , CM000685.2:g.154419586G>A	GRCh38
NC_000023.10:g.153647925G>A , CM000685.1:g.153647925G>A	GRCh37
NC_000023.9:g.153301119G>A	NCBI36
NG_009634.1:g.13049G>A
NG_009634.2:g.13052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.948G>A
ENST00000698317.1:n.1564G>A
ENST00000698318.1:n.1347G>A
ENST00000698319.1:n.710G>A
ENST00000698320.1:n.598G>A
ENST00000470127.2:n.692G>A
ENST00000475699.6:c.468G>A	ENSP00000419854.3:p.Lys156=
ENST00000483674.3:n.305G>A
ENST00000601016.6:c.504G>A MANE Select	ENSP00000469981.1:p.Lys168=
ENST00000612012.5:c.504G>A	ENSP00000482070.2:p.Lys168=
ENST00000612460.5:c.414G>A	ENSP00000481037.1:p.Lys138=
ENST00000614595.2:n.1851G>A
ENST00000615658.5:n.727G>A
ENST00000616020.5:c.558G>A	ENSP00000483636.2:p.Lys186=
ENST00000617701.5:c.*232G>A	ENSP00000481645.1:n.*232G>A
ENST00000652354.1:c.228G>A	ENSP00000498734.1:p.Lys76=
ENST00000652358.1:c.297G>A	ENSP00000498464.1:p.Lys99=
ENST00000652390.1:c.423G>A	ENSP00000498858.1:p.Lys141=
ENST00000652476.1:n.804G>A
ENST00000652644.1:c.117G>A	ENSP00000498496.1:p.Lys39=
ENST00000652682.1:c.561G>A	ENSP00000498288.1:p.Lys187=
ENST00000652685.1:n.572G>A
ENST00000369776.8:c.339G>A	ENSP00000358791.4:p.Lys113=
ENST00000426231.5:c.420G>A
ENST00000439735.2:c.411G>A	ENSP00000398193.1:p.Lys137=
ENST00000470127.1:n.83G>A
ENST00000475699.5:c.504G>A	ENSP00000419854.2:p.Lys168=
ENST00000476679.5:n.417G>A
ENST00000483674.2:n.123G>A
ENST00000483780.5:n.188G>A
ENST00000494912.5:n.1112G>A
ENST00000601016.5:c.504G>A	ENSP00000469981.1:p.Lys168=
ENST00000612012.4:c.468G>A	ENSP00000482070.1:p.Lys156=
ENST00000612460.4:c.414G>A	ENSP00000481037.1:p.Lys138=
ENST00000613002.4:c.414G>A	ENSP00000478154.1:p.Lys138=
ENST00000613634.4:n.734G>A
ENST00000615658.4:n.827G>A
ENST00000615986.4:c.*232G>A	ENSP00000480133.1:n.*232G>A
ENST00000620808.4:c.*170-446G>A	ENSP00000479311.1:n.*170-446G>A
NM_000116.4:c.504G>A	NP_000107.1:p.Lys168=
NM_001303465.1:c.558G>A	NP_001290394.1:p.Lys186=
NM_181311.3:c.414G>A	NP_851828.1:p.Lys138=
NM_181312.3:c.504G>A	NP_851829.1:p.Lys168=
NM_181313.3:c.414G>A	NP_851830.1:p.Lys138=
NR_024048.2:n.846G>A
XM_006724836.1:c.558G>A	XP_006724899.1:p.Lys186=
XM_006724837.1:c.468G>A	XP_006724900.1:p.Lys156=
XM_006724839.1:c.468G>A	XP_006724902.1:p.Lys156=
XM_006724841.2:c.297G>A	XP_006724904.1:p.Lys99=
XM_006724842.2:c.207G>A	XP_006724905.1:p.Lys69=
XM_011531189.1:c.425-446G>A	XP_011529491.1:n.425-446G>A
XM_011531190.1:c.297G>A	XP_011529492.1:p.Lys99=
XM_011531191.1:c.228G>A	XP_011529493.1:p.Lys76=
XM_011531192.1:c.225G>A	XP_011529494.1:p.Lys75=
XR_938511.1:n.771G>A
XM_006724841.4:c.297G>A	XP_006724904.1:p.Lys99=
XM_006724842.4:c.207G>A	XP_006724905.1:p.Lys69=
XM_011531191.2:c.228G>A	XP_011529493.1:p.Lys76=
XM_017029761.1:c.414G>A	XP_016885250.1:p.Lys138=
XM_017029762.1:c.468G>A	XP_016885251.1:p.Lys156=
XM_017029763.1:c.371-446G>A	XP_016885252.1:n.371-446G>A
XM_017029764.1:c.225G>A	XP_016885253.1:p.Lys75=
XM_017029765.2:c.207G>A	XP_016885254.1:p.Lys69=
XM_024452431.1:c.425-446G>A	XP_024308199.1:n.425-446G>A
NM_000116.5:c.504G>A MANE Select	NP_000107.1:p.Lys168=
NM_001303465.2:c.558G>A	NP_001290394.1:p.Lys186=
NM_181311.4:c.414G>A	NP_851828.1:p.Lys138=
NM_181312.4:c.504G>A	NP_851829.1:p.Lys168=
NM_181313.4:c.414G>A	NP_851830.1:p.Lys138=
NR_024048.3:n.825G>A