Canonical Allele Identifier: CA415182157

Gene: TAFAZZIN

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000116.5:c.370G>T MANE Select	NP_000107.1:p.Gly124Ter
ENST00000601016.6:c.370G>T MANE Select	ENSP00000469981.1:p.Gly124Ter
NM_000116.4:c.370G>T	NP_000107.1:p.Gly124Ter
NM_001303465.1:c.424G>T	NP_001290394.1:p.Gly142Ter
NM_001303465.2:c.424G>T	NP_001290394.1:p.Gly142Ter
NM_181311.3:c.370G>T	NP_851828.1:p.Gly124Ter
NM_181311.4:c.370G>T	NP_851828.1:p.Gly124Ter
NM_181312.3:c.370G>T	NP_851829.1:p.Gly124Ter
NM_181312.4:c.370G>T	NP_851829.1:p.Gly124Ter
NM_181313.3:c.370G>T	NP_851830.1:p.Gly124Ter
NM_181313.4:c.370G>T	NP_851830.1:p.Gly124Ter
NR_024048.2:n.802G>T
NR_024048.3:n.781G>T
ENST00000369776.8:c.295G>T	ENSP00000358791.4:p.Gly99Ter
ENST00000426231.5:c.286G>T
ENST00000439735.2:c.370G>T	ENSP00000398193.1:p.Asp124Tyr
ENST00000470127.1:n.39G>T
ENST00000470127.2:n.648G>T
ENST00000475699.5:c.370G>T	ENSP00000419854.2:p.Gly124Ter
ENST00000475699.6:c.424G>T	ENSP00000419854.3:p.Gly142Ter
ENST00000476679.5:n.283G>T
ENST00000476800.1:n.477G>T
ENST00000476800.2:n.1556G>T
ENST00000479875.1:n.399G>T
ENST00000483674.2:n.79G>T
ENST00000483674.3:n.261G>T
ENST00000483780.5:n.144G>T
ENST00000601016.5:c.370G>T	ENSP00000469981.1:p.Gly124Ter
ENST00000612012.4:c.424G>T	ENSP00000482070.1:p.Gly142Ter
ENST00000612012.5:c.370G>T	ENSP00000482070.2:p.Gly124Ter
ENST00000612460.4:c.370G>T	ENSP00000481037.1:p.Gly124Ter
ENST00000612460.5:c.370G>T	ENSP00000481037.1:p.Gly124Ter
ENST00000613002.4:c.370G>T	ENSP00000478154.1:p.Gly124Ter
ENST00000613634.4:n.690G>T
ENST00000614595.2:n.1807G>T
ENST00000615658.4:n.783G>T
ENST00000615658.5:n.683G>T
ENST00000615986.4:c.*188G>T	ENSP00000480133.1:n.*188G>T
ENST00000616020.4:c.424G>T	ENSP00000483636.1:p.Gly142Ter
ENST00000616020.5:c.424G>T	ENSP00000483636.2:p.Gly142Ter
ENST00000617701.4:c.*200G>T	ENSP00000481645.1:n.*200G>T
ENST00000617701.5:c.*188G>T	ENSP00000481645.1:n.*188G>T
ENST00000620808.4:c.*169G>T	ENSP00000479311.1:n.*169G>T
ENST00000621647.1:n.884G>T
ENST00000621647.2:n.652G>T
ENST00000652354.1:c.94G>T	ENSP00000498734.1:p.Gly32Ter
ENST00000652358.1:c.163G>T	ENSP00000498464.1:p.Gly55Ter
ENST00000652390.1:c.289G>T	ENSP00000498858.1:p.Gly97Ter
ENST00000652476.1:n.760G>T
ENST00000652644.1:c.16G>T	ENSP00000498496.1:p.Ala6Ser
ENST00000652682.1:c.370G>T	ENSP00000498288.1:p.Gly124Ter
ENST00000652685.1:n.528G>T
ENST00000698234.1:n.904G>T
ENST00000698235.1:n.444G>T
ENST00000698317.1:n.1430G>T
ENST00000698318.1:n.1303G>T
XM_006724836.1:c.424G>T	XP_006724899.1:p.Gly142Ter
XM_006724837.1:c.424G>T	XP_006724900.1:p.Gly142Ter
XM_006724839.1:c.424G>T	XP_006724902.1:p.Gly142Ter
XM_006724841.2:c.163G>T	XP_006724904.1:p.Gly55Ter
XM_006724841.4:c.163G>T	XP_006724904.1:p.Gly55Ter
XM_006724842.2:c.163G>T	XP_006724905.1:p.Gly55Ter
XM_006724842.4:c.163G>T	XP_006724905.1:p.Gly55Ter
XM_011531189.1:c.424G>T	XP_011529491.1:p.Gly142Ter
XM_011531190.1:c.163G>T	XP_011529492.1:p.Gly55Ter
XM_011531191.1:c.94G>T	XP_011529493.1:p.Gly32Ter
XM_011531191.2:c.94G>T	XP_011529493.1:p.Gly32Ter
XM_011531192.1:c.91G>T	XP_011529494.1:p.Gly31Ter
XM_017029761.1:c.370G>T	XP_016885250.1:p.Gly124Ter
XM_017029762.1:c.424G>T	XP_016885251.1:p.Gly142Ter
XM_017029763.1:c.370G>T	XP_016885252.1:p.Gly124Ter
XM_017029764.1:c.91G>T	XP_016885253.1:p.Gly31Ter
XM_017029765.2:c.163G>T	XP_016885254.1:p.Gly55Ter
XM_024452431.1:c.424G>T	XP_024308199.1:p.Gly142Ter
XR_938511.1:n.727G>T