Canonical Allele Identifier: CA415184180

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648391G>T (hg19) ; chrX:g.154420052G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420052G>T , CM000685.2:g.154420052G>T	GRCh38
NC_000023.10:g.153648391G>T , CM000685.1:g.153648391G>T	GRCh37
NC_000023.9:g.153301585G>T	NCBI36
NG_009634.1:g.13515G>T
NG_009634.2:g.13518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1414G>T
ENST00000698317.1:n.2030G>T
ENST00000698318.1:n.1813G>T
ENST00000698319.1:n.1176G>T
ENST00000698320.1:n.1064G>T
ENST00000470127.2:n.1077G>T
ENST00000475699.6:c.568G>T	ENSP00000419854.3:p.Glu190Ter
ENST00000483674.3:n.486G>T
ENST00000601016.6:c.604G>T MANE Select	ENSP00000469981.1:p.Glu202Ter
ENST00000612012.5:c.562G>T	ENSP00000482070.2:p.Glu188Ter
ENST00000612460.5:c.514G>T	ENSP00000481037.1:p.Glu172Ter
ENST00000614595.2:n.1951G>T
ENST00000615658.5:n.1193G>T
ENST00000616020.5:c.616G>T	ENSP00000483636.2:p.Glu206Ter
ENST00000617701.5:c.*617G>T	ENSP00000481645.1:n.*617G>T
ENST00000652354.1:c.286G>T	ENSP00000498734.1:p.Glu96Ter
ENST00000652358.1:c.397G>T	ENSP00000498464.1:p.Glu133Ter
ENST00000652390.1:c.523G>T	ENSP00000498858.1:p.Glu175Ter
ENST00000652476.1:n.1270G>T
ENST00000652644.1:c.217G>T	ENSP00000498496.1:p.Glu73Ter
ENST00000652682.1:c.661G>T	ENSP00000498288.1:p.Glu221Ter
ENST00000652685.1:n.957G>T
ENST00000369776.8:c.397G>T	ENSP00000358791.4:p.Glu133Ter
ENST00000426231.5:c.601G>T
ENST00000439735.2:c.511G>T	ENSP00000398193.1:p.Glu171Ter
ENST00000470127.1:n.183G>T
ENST00000475699.5:c.562G>T	ENSP00000419854.2:p.Glu188Ter
ENST00000494912.5:n.1293G>T
ENST00000498029.1:n.62G>T
ENST00000601016.5:c.604G>T	ENSP00000469981.1:p.Glu202Ter
ENST00000612012.4:c.568G>T	ENSP00000482070.1:p.Glu190Ter
ENST00000612460.4:c.514G>T	ENSP00000481037.1:p.Glu172Ter
ENST00000613002.4:c.472G>T	ENSP00000478154.1:p.Glu158Ter
ENST00000615658.4:n.1293G>T
ENST00000615986.4:c.*332G>T	ENSP00000480133.1:n.*332G>T
ENST00000620808.4:c.*190G>T	ENSP00000479311.1:n.*190G>T
NM_000116.4:c.604G>T	NP_000107.1:p.Glu202Ter
NM_001303465.1:c.616G>T	NP_001290394.1:p.Glu206Ter
NM_181311.3:c.514G>T	NP_851828.1:p.Glu172Ter
NM_181312.3:c.562G>T	NP_851829.1:p.Glu188Ter
NM_181313.3:c.472G>T	NP_851830.1:p.Glu158Ter
NR_024048.2:n.946G>T
XM_006724836.1:c.658G>T	XP_006724899.1:p.Glu220Ter
XM_006724837.1:c.526G>T	XP_006724900.1:p.Glu176Ter
XM_006724839.1:c.526G>T	XP_006724902.1:p.Glu176Ter
XM_006724841.2:c.397G>T	XP_006724904.1:p.Glu133Ter
XM_006724842.2:c.307G>T	XP_006724905.1:p.Glu103Ter
XM_011531189.1:c.445G>T	XP_011529491.1:p.Glu149Ter
XM_011531190.1:c.397G>T	XP_011529492.1:p.Glu133Ter
XM_011531191.1:c.328G>T	XP_011529493.1:p.Glu110Ter
XM_011531192.1:c.325G>T	XP_011529494.1:p.Glu109Ter
XR_938511.1:n.952G>T
XM_006724841.4:c.397G>T	XP_006724904.1:p.Glu133Ter
XM_006724842.4:c.307G>T	XP_006724905.1:p.Glu103Ter
XM_011531191.2:c.328G>T	XP_011529493.1:p.Glu110Ter
XM_017029761.1:c.472G>T	XP_016885250.1:p.Glu158Ter
XM_017029762.1:c.568G>T	XP_016885251.1:p.Glu190Ter
XM_017029763.1:c.391G>T	XP_016885252.1:p.Glu131Ter
XM_017029764.1:c.325G>T	XP_016885253.1:p.Glu109Ter
XM_017029765.2:c.265G>T	XP_016885254.1:p.Glu89Ter
XM_024452431.1:c.445G>T	XP_024308199.1:p.Glu149Ter
NM_000116.5:c.604G>T MANE Select	NP_000107.1:p.Glu202Ter
NM_001303465.2:c.616G>T	NP_001290394.1:p.Glu206Ter
NM_181311.4:c.514G>T	NP_851828.1:p.Glu172Ter
NM_181312.4:c.562G>T	NP_851829.1:p.Glu188Ter
NM_181313.4:c.472G>T	NP_851830.1:p.Glu158Ter
NR_024048.3:n.925G>T