Canonical Allele Identifier: CA415181020

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641833C>A (hg19) ; chrX:g.154413496C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.833C>A
ENST00000698235.1:n.373C>A
ENST00000698317.1:n.1359C>A
ENST00000698318.1:n.1232C>A
ENST00000470127.2:n.577C>A
ENST00000475699.6:c.353C>A	ENSP00000419854.3:p.Ala118Glu
ENST00000476800.2:n.1485C>A
ENST00000483674.3:n.190C>A
ENST00000601016.6:c.299C>A MANE Select	ENSP00000469981.1:p.Ala100Glu
ENST00000612012.5:c.299C>A	ENSP00000482070.2:p.Ala100Glu
ENST00000612460.5:c.299C>A	ENSP00000481037.1:p.Ala100Glu
ENST00000614595.2:n.1736C>A
ENST00000615658.5:n.612C>A
ENST00000616020.5:c.353C>A	ENSP00000483636.2:p.Ala118Glu
ENST00000617701.5:c.*117C>A	ENSP00000481645.1:n.*117C>A
ENST00000621647.2:n.581C>A
ENST00000652354.1:c.23C>A	ENSP00000498734.1:p.Ala8Glu
ENST00000652358.1:c.92C>A	ENSP00000498464.1:p.Ala31Glu
ENST00000652390.1:c.218C>A	ENSP00000498858.1:p.Ala73Glu
ENST00000652476.1:n.689C>A
ENST00000652682.1:c.299C>A	ENSP00000498288.1:p.Ala100Glu
ENST00000652685.1:n.457C>A
ENST00000369776.8:c.224C>A	ENSP00000358791.4:p.Ala75Glu
ENST00000426231.5:c.215C>A
ENST00000439735.2:c.299C>A	ENSP00000398193.1:p.Ala100Glu
ENST00000475699.5:c.299C>A	ENSP00000419854.2:p.Ala100Glu
ENST00000476679.5:n.212C>A
ENST00000476800.1:n.406C>A
ENST00000479875.1:n.328C>A
ENST00000483674.2:n.8C>A
ENST00000483780.5:n.73C>A
ENST00000601016.5:c.299C>A	ENSP00000469981.1:p.Ala100Glu
ENST00000612012.4:c.353C>A	ENSP00000482070.1:p.Ala118Glu
ENST00000612460.4:c.299C>A	ENSP00000481037.1:p.Ala100Glu
ENST00000613002.4:c.299C>A	ENSP00000478154.1:p.Ala100Glu
ENST00000613634.4:n.619C>A
ENST00000615658.4:n.712C>A
ENST00000615986.4:c.*117C>A	ENSP00000480133.1:n.*117C>A
ENST00000616020.4:c.353C>A	ENSP00000483636.1:p.Ala118Glu
ENST00000617701.4:c.*129C>A	ENSP00000481645.1:n.*129C>A
ENST00000620808.4:c.*98C>A	ENSP00000479311.1:n.*98C>A
ENST00000621647.1:n.813C>A
NM_000116.4:c.299C>A	NP_000107.1:p.Ala100Glu
NM_001303465.1:c.353C>A	NP_001290394.1:p.Ala118Glu
NM_181311.3:c.299C>A	NP_851828.1:p.Ala100Glu
NM_181312.3:c.299C>A	NP_851829.1:p.Ala100Glu
NM_181313.3:c.299C>A	NP_851830.1:p.Ala100Glu
NR_024048.2:n.731C>A
XM_006724836.1:c.353C>A	XP_006724899.1:p.Ala118Glu
XM_006724837.1:c.353C>A	XP_006724900.1:p.Ala118Glu
XM_006724839.1:c.353C>A	XP_006724902.1:p.Ala118Glu
XM_006724841.2:c.92C>A	XP_006724904.1:p.Ala31Glu
XM_006724842.2:c.92C>A	XP_006724905.1:p.Ala31Glu
XM_011531189.1:c.353C>A	XP_011529491.1:p.Ala118Glu
XM_011531190.1:c.92C>A	XP_011529492.1:p.Ala31Glu
XM_011531191.1:c.23C>A	XP_011529493.1:p.Ala8Glu
XM_011531192.1:c.20C>A	XP_011529494.1:p.Ala7Glu
XR_938511.1:n.656C>A
XM_006724841.4:c.92C>A	XP_006724904.1:p.Ala31Glu
XM_006724842.4:c.92C>A	XP_006724905.1:p.Ala31Glu
XM_011531191.2:c.23C>A	XP_011529493.1:p.Ala8Glu
XM_017029761.1:c.299C>A	XP_016885250.1:p.Ala100Glu
XM_017029762.1:c.353C>A	XP_016885251.1:p.Ala118Glu
XM_017029763.1:c.299C>A	XP_016885252.1:p.Ala100Glu
XM_017029764.1:c.20C>A	XP_016885253.1:p.Ala7Glu
XM_017029765.2:c.92C>A	XP_016885254.1:p.Ala31Glu
XM_024452431.1:c.353C>A	XP_024308199.1:p.Ala118Glu
NM_000116.5:c.299C>A MANE Select	NP_000107.1:p.Ala100Glu
NM_001303465.2:c.353C>A	NP_001290394.1:p.Ala118Glu
NM_181311.4:c.299C>A	NP_851828.1:p.Ala100Glu
NM_181312.4:c.299C>A	NP_851829.1:p.Ala100Glu
NM_181313.4:c.299C>A	NP_851830.1:p.Ala100Glu
NR_024048.3:n.710C>A