Canonical Allele Identifier: CA10562335

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154414101G>A , CM000685.2:g.154414101G>A	GRCh38
NC_000023.10:g.153642438G>A , CM000685.1:g.153642438G>A	GRCh37
NC_000023.9:g.153295632G>A	NCBI36
NG_009634.1:g.7562G>A
NG_012884.2:g.2988C>T
NG_009634.2:g.7567G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000116.5:c.371G>A MANE Select	NP_000107.1:p.Gly124Glu
ENST00000601016.6:c.371G>A MANE Select	ENSP00000469981.1:p.Gly124Glu
NM_000116.4:c.371G>A	NP_000107.1:p.Gly124Glu
NM_001303465.1:c.425G>A	NP_001290394.1:p.Gly142Glu
NM_001303465.2:c.425G>A	NP_001290394.1:p.Gly142Glu
NM_181311.3:c.370+534G>A	NP_851828.1:n.370+534G>A
NM_181311.4:c.370+534G>A	NP_851828.1:n.370+534G>A
NM_181312.3:c.371G>A	NP_851829.1:p.Gly124Glu
NM_181312.4:c.371G>A	NP_851829.1:p.Gly124Glu
NM_181313.3:c.370+534G>A	NP_851830.1:n.370+534G>A
NM_181313.4:c.370+534G>A	NP_851830.1:n.370+534G>A
NR_024048.2:n.802+534G>A
NR_024048.3:n.781+534G>A
ENST00000369776.8:c.295+534G>A	ENSP00000358791.4:n.295+534G>A
ENST00000426231.5:c.287G>A
ENST00000439735.2:c.370+534G>A	ENSP00000398193.1:n.370+534G>A
ENST00000470127.1:n.39+534G>A
ENST00000470127.2:n.648+534G>A
ENST00000475699.5:c.371G>A	ENSP00000419854.2:p.Gly124Glu
ENST00000475699.6:c.424+534G>A	ENSP00000419854.3:n.424+534G>A
ENST00000476679.5:n.284G>A
ENST00000476800.1:n.478G>A
ENST00000476800.2:n.1557G>A
ENST00000483674.2:n.79+534G>A
ENST00000483674.3:n.261+534G>A
ENST00000483780.5:n.144+534G>A
ENST00000601016.5:c.371G>A	ENSP00000469981.1:p.Gly124Glu
ENST00000612012.4:c.424+534G>A	ENSP00000482070.1:n.424+534G>A
ENST00000612012.5:c.371G>A	ENSP00000482070.2:p.Gly124Glu
ENST00000612460.4:c.370+534G>A	ENSP00000481037.1:n.370+534G>A
ENST00000612460.5:c.370+534G>A	ENSP00000481037.1:n.370+534G>A
ENST00000613002.4:c.370+534G>A	ENSP00000478154.1:n.370+534G>A
ENST00000613634.4:n.690+534G>A
ENST00000614595.2:n.1807+534G>A
ENST00000615658.4:n.783+534G>A
ENST00000615658.5:n.683+534G>A
ENST00000615986.4:c.*188+534G>A	ENSP00000480133.1:n.*188+534G>A
ENST00000616020.4:c.425G>A	ENSP00000483636.1:p.Gly142Glu
ENST00000616020.5:c.425G>A	ENSP00000483636.2:p.Gly142Glu
ENST00000617701.5:c.*188+534G>A	ENSP00000481645.1:n.*188+534G>A
ENST00000620808.4:c.*169+534G>A	ENSP00000479311.1:n.*169+534G>A
ENST00000621647.2:n.1186G>A
ENST00000652354.1:c.95G>A	ENSP00000498734.1:p.Gly32Glu
ENST00000652358.1:c.164G>A	ENSP00000498464.1:p.Gly55Glu
ENST00000652390.1:c.290G>A	ENSP00000498858.1:p.Gly97Glu
ENST00000652476.1:n.760+534G>A
ENST00000652644.1:c.16+534G>A	ENSP00000498496.1:n.16+534G>A
ENST00000652682.1:c.371G>A	ENSP00000498288.1:p.Gly124Glu
ENST00000652685.1:n.528+534G>A
ENST00000698234.1:n.904+534G>A
ENST00000698235.1:n.978G>A
ENST00000698317.1:n.1431G>A
ENST00000698318.1:n.1303+534G>A
XM_006724836.1:c.425G>A	XP_006724899.1:p.Gly142Glu
XM_006724837.1:c.424+534G>A	XP_006724900.1:n.424+534G>A
XM_006724839.1:c.424+534G>A	XP_006724902.1:n.424+534G>A
XM_006724841.2:c.164G>A	XP_006724904.1:p.Gly55Glu
XM_006724841.4:c.164G>A	XP_006724904.1:p.Gly55Glu
XM_006724842.2:c.163+534G>A	XP_006724905.1:n.163+534G>A
XM_006724842.4:c.163+534G>A	XP_006724905.1:n.163+534G>A
XM_011531189.1:c.424+534G>A	XP_011529491.1:n.424+534G>A
XM_011531190.1:c.164G>A	XP_011529492.1:p.Gly55Glu
XM_011531191.1:c.95G>A	XP_011529493.1:p.Gly32Glu
XM_011531191.2:c.95G>A	XP_011529493.1:p.Gly32Glu
XM_011531192.1:c.92G>A	XP_011529494.1:p.Gly31Glu
XM_017029761.1:c.370+534G>A	XP_016885250.1:n.370+534G>A
XM_017029762.1:c.424+534G>A	XP_016885251.1:n.424+534G>A
XM_017029763.1:c.370+534G>A	XP_016885252.1:n.370+534G>A
XM_017029764.1:c.92G>A	XP_016885253.1:p.Gly31Glu
XM_017029765.2:c.163+534G>A	XP_016885254.1:n.163+534G>A
XM_024452431.1:c.424+534G>A	XP_024308199.1:n.424+534G>A
XR_938511.1:n.727+534G>A