Canonical Allele Identifier: CA2466675367

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413567G= , CM000685.2:g.154413567G=	GRCh38
NC_000023.10:g.153641904G= , CM000685.1:g.153641904G=	GRCh37
NC_000023.9:g.153295098G=	NCBI36
NG_009634.1:g.7028G=
NG_012884.2:g.3522C=
NG_009634.2:g.7033G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.904G=
ENST00000698235.1:n.444G=
ENST00000698317.1:n.1430G=
ENST00000698318.1:n.1303G=
ENST00000470127.2:n.648G=
ENST00000475699.6:c.424G=	ENSP00000419854.3:p.Gly142=
ENST00000476800.2:n.1556G=
ENST00000483674.3:n.261G=
ENST00000601016.6:c.370G= MANE Select	ENSP00000469981.1:p.Gly124=
ENST00000612012.5:c.370G=	ENSP00000482070.2:p.Gly124=
ENST00000612460.5:c.370G=	ENSP00000481037.1:p.Gly124=
ENST00000614595.2:n.1807G=
ENST00000615658.5:n.683G=
ENST00000616020.5:c.424G=	ENSP00000483636.2:p.Gly142=
ENST00000617701.5:c.*188G=	ENSP00000481645.1:n.*188G=
ENST00000621647.2:n.652G=
ENST00000652354.1:c.94G=	ENSP00000498734.1:p.Gly32=
ENST00000652358.1:c.163G=	ENSP00000498464.1:p.Gly55=
ENST00000652390.1:c.289G=	ENSP00000498858.1:p.Gly97=
ENST00000652476.1:n.760G=
ENST00000652644.1:c.16G=	ENSP00000498496.1:p.Ala6=
ENST00000652682.1:c.370G=	ENSP00000498288.1:p.Gly124=
ENST00000652685.1:n.528G=
ENST00000369776.8:c.295G=	ENSP00000358791.4:p.Gly99=
ENST00000426231.5:c.286G=
ENST00000439735.2:c.370G=	ENSP00000398193.1:p.Asp124=
ENST00000470127.1:n.39G=
ENST00000475699.5:c.370G=	ENSP00000419854.2:p.Gly124=
ENST00000476679.5:n.283G=
ENST00000476800.1:n.477G=
ENST00000479875.1:n.399G=
ENST00000483674.2:n.79G=
ENST00000483780.5:n.144G=
ENST00000601016.5:c.370G=	ENSP00000469981.1:p.Gly124=
ENST00000612012.4:c.424G=	ENSP00000482070.1:p.Gly142=
ENST00000612460.4:c.370G=	ENSP00000481037.1:p.Gly124=
ENST00000613002.4:c.370G=	ENSP00000478154.1:p.Gly124=
ENST00000613634.4:n.690G=
ENST00000615658.4:n.783G=
ENST00000615986.4:c.*188G=	ENSP00000480133.1:n.*188G=
ENST00000616020.4:c.424G=	ENSP00000483636.1:p.Gly142=
ENST00000617701.4:c.*200G=	ENSP00000481645.1:n.*200G=
ENST00000620808.4:c.*169G=	ENSP00000479311.1:n.*169G=
ENST00000621647.1:n.884G=
NM_000116.4:c.370G=	NP_000107.1:p.Gly124=
NM_001303465.1:c.424G=	NP_001290394.1:p.Gly142=
NM_181311.3:c.370G=	NP_851828.1:p.Gly124=
NM_181312.3:c.370G=	NP_851829.1:p.Gly124=
NM_181313.3:c.370G=	NP_851830.1:p.Gly124=
NR_024048.2:n.802G=
XM_006724836.1:c.424G=	XP_006724899.1:p.Gly142=
XM_006724837.1:c.424G=	XP_006724900.1:p.Gly142=
XM_006724839.1:c.424G=	XP_006724902.1:p.Gly142=
XM_006724841.2:c.163G=	XP_006724904.1:p.Gly55=
XM_006724842.2:c.163G=	XP_006724905.1:p.Gly55=
XM_011531189.1:c.424G=	XP_011529491.1:p.Gly142=
XM_011531190.1:c.163G=	XP_011529492.1:p.Gly55=
XM_011531191.1:c.94G=	XP_011529493.1:p.Gly32=
XM_011531192.1:c.91G=	XP_011529494.1:p.Gly31=
XR_938511.1:n.727G=
XM_006724841.4:c.163G=	XP_006724904.1:p.Gly55=
XM_006724842.4:c.163G=	XP_006724905.1:p.Gly55=
XM_011531191.2:c.94G=	XP_011529493.1:p.Gly32=
XM_017029761.1:c.370G=	XP_016885250.1:p.Gly124=
XM_017029762.1:c.424G=	XP_016885251.1:p.Gly142=
XM_017029763.1:c.370G=	XP_016885252.1:p.Gly124=
XM_017029764.1:c.91G=	XP_016885253.1:p.Gly31=
XM_017029765.2:c.163G=	XP_016885254.1:p.Gly55=
XM_024452431.1:c.424G=	XP_024308199.1:p.Gly142=
NM_000116.5:c.370G= MANE Select	NP_000107.1:p.Gly124=
NM_001303465.2:c.424G=	NP_001290394.1:p.Gly142=
NM_181311.4:c.370G=	NP_851828.1:p.Gly124=
NM_181312.4:c.370G=	NP_851829.1:p.Gly124=
NM_181313.4:c.370G=	NP_851830.1:p.Gly124=
NR_024048.3:n.781G=