Canonical Allele Identifier: CA415181024

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 568764
• ClinVar RCV Id: RCV000689221 ; RCV001509135 ; RCV002462025
• dbSNP Id: rs1569552722
• gnomAD v4: X-154413496-C-T
• MyVariant Identifiers: chrX:g.153641833C>T (hg19) ; chrX:g.154413496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413496C>T , CM000685.2:g.154413496C>T	GRCh38
NC_000023.10:g.153641833C>T , CM000685.1:g.153641833C>T	GRCh37
NC_000023.9:g.153295027C>T	NCBI36
NG_009634.1:g.6957C>T
NG_012884.2:g.3593G>A
NG_009634.2:g.6962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.833C>T
ENST00000698235.1:n.373C>T
ENST00000698317.1:n.1359C>T
ENST00000698318.1:n.1232C>T
ENST00000470127.2:n.577C>T
ENST00000475699.6:c.353C>T	ENSP00000419854.3:p.Ala118Val
ENST00000476800.2:n.1485C>T
ENST00000483674.3:n.190C>T
ENST00000601016.6:c.299C>T MANE Select	ENSP00000469981.1:p.Ala100Val
ENST00000612012.5:c.299C>T	ENSP00000482070.2:p.Ala100Val
ENST00000612460.5:c.299C>T	ENSP00000481037.1:p.Ala100Val
ENST00000614595.2:n.1736C>T
ENST00000615658.5:n.612C>T
ENST00000616020.5:c.353C>T	ENSP00000483636.2:p.Ala118Val
ENST00000617701.5:c.*117C>T	ENSP00000481645.1:n.*117C>T
ENST00000621647.2:n.581C>T
ENST00000652354.1:c.23C>T	ENSP00000498734.1:p.Ala8Val
ENST00000652358.1:c.92C>T	ENSP00000498464.1:p.Ala31Val
ENST00000652390.1:c.218C>T	ENSP00000498858.1:p.Ala73Val
ENST00000652476.1:n.689C>T
ENST00000652682.1:c.299C>T	ENSP00000498288.1:p.Ala100Val
ENST00000652685.1:n.457C>T
ENST00000369776.8:c.224C>T	ENSP00000358791.4:p.Ala75Val
ENST00000426231.5:c.215C>T
ENST00000439735.2:c.299C>T	ENSP00000398193.1:p.Ala100Val
ENST00000475699.5:c.299C>T	ENSP00000419854.2:p.Ala100Val
ENST00000476679.5:n.212C>T
ENST00000476800.1:n.406C>T
ENST00000479875.1:n.328C>T
ENST00000483674.2:n.8C>T
ENST00000483780.5:n.73C>T
ENST00000601016.5:c.299C>T	ENSP00000469981.1:p.Ala100Val
ENST00000612012.4:c.353C>T	ENSP00000482070.1:p.Ala118Val
ENST00000612460.4:c.299C>T	ENSP00000481037.1:p.Ala100Val
ENST00000613002.4:c.299C>T	ENSP00000478154.1:p.Ala100Val
ENST00000613634.4:n.619C>T
ENST00000615658.4:n.712C>T
ENST00000615986.4:c.*117C>T	ENSP00000480133.1:n.*117C>T
ENST00000616020.4:c.353C>T	ENSP00000483636.1:p.Ala118Val
ENST00000617701.4:c.*129C>T	ENSP00000481645.1:n.*129C>T
ENST00000620808.4:c.*98C>T	ENSP00000479311.1:n.*98C>T
ENST00000621647.1:n.813C>T
NM_000116.4:c.299C>T	NP_000107.1:p.Ala100Val
NM_001303465.1:c.353C>T	NP_001290394.1:p.Ala118Val
NM_181311.3:c.299C>T	NP_851828.1:p.Ala100Val
NM_181312.3:c.299C>T	NP_851829.1:p.Ala100Val
NM_181313.3:c.299C>T	NP_851830.1:p.Ala100Val
NR_024048.2:n.731C>T
XM_006724836.1:c.353C>T	XP_006724899.1:p.Ala118Val
XM_006724837.1:c.353C>T	XP_006724900.1:p.Ala118Val
XM_006724839.1:c.353C>T	XP_006724902.1:p.Ala118Val
XM_006724841.2:c.92C>T	XP_006724904.1:p.Ala31Val
XM_006724842.2:c.92C>T	XP_006724905.1:p.Ala31Val
XM_011531189.1:c.353C>T	XP_011529491.1:p.Ala118Val
XM_011531190.1:c.92C>T	XP_011529492.1:p.Ala31Val
XM_011531191.1:c.23C>T	XP_011529493.1:p.Ala8Val
XM_011531192.1:c.20C>T	XP_011529494.1:p.Ala7Val
XR_938511.1:n.656C>T
XM_006724841.4:c.92C>T	XP_006724904.1:p.Ala31Val
XM_006724842.4:c.92C>T	XP_006724905.1:p.Ala31Val
XM_011531191.2:c.23C>T	XP_011529493.1:p.Ala8Val
XM_017029761.1:c.299C>T	XP_016885250.1:p.Ala100Val
XM_017029762.1:c.353C>T	XP_016885251.1:p.Ala118Val
XM_017029763.1:c.299C>T	XP_016885252.1:p.Ala100Val
XM_017029764.1:c.20C>T	XP_016885253.1:p.Ala7Val
XM_017029765.2:c.92C>T	XP_016885254.1:p.Ala31Val
XM_024452431.1:c.353C>T	XP_024308199.1:p.Ala118Val
NM_000116.5:c.299C>T MANE Select	NP_000107.1:p.Ala100Val
NM_001303465.2:c.353C>T	NP_001290394.1:p.Ala118Val
NM_181311.4:c.299C>T	NP_851828.1:p.Ala100Val
NM_181312.4:c.299C>T	NP_851829.1:p.Ala100Val
NM_181313.4:c.299C>T	NP_851830.1:p.Ala100Val
NR_024048.3:n.710C>T