Canonical Allele Identifier: CA415185463

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649051C>G (hg19) ; chrX:g.154420712C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420712C>G , CM000685.2:g.154420712C>G	GRCh38
NC_000023.10:g.153649051C>G , CM000685.1:g.153649051C>G	GRCh37
NC_000023.9:g.153302245C>G	NCBI36
NG_009634.1:g.14175C>G
NG_009634.2:g.14178C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1564C>G
ENST00000698317.1:n.2180C>G
ENST00000698318.1:n.1963C>G
ENST00000698319.1:n.1326C>G
ENST00000698320.1:n.1214C>G
ENST00000470127.2:n.1227C>G
ENST00000475699.6:c.718C>G	ENSP00000419854.3:p.Leu240Val
ENST00000483674.3:n.636C>G
ENST00000601016.6:c.754C>G MANE Select	ENSP00000469981.1:p.Leu252Val
ENST00000612012.5:c.712C>G	ENSP00000482070.2:p.Leu238Val
ENST00000612460.5:c.664C>G	ENSP00000481037.1:p.Leu222Val
ENST00000614595.2:n.2101C>G
ENST00000615658.5:n.1343C>G
ENST00000616020.5:c.766C>G	ENSP00000483636.2:p.Leu256Val
ENST00000617701.5:c.*767C>G	ENSP00000481645.1:n.*767C>G
ENST00000651139.1:c.-30C>G	ENSP00000498957.1:n.-30C>G
ENST00000652354.1:c.436C>G	ENSP00000498734.1:p.Leu146Val
ENST00000652358.1:c.547C>G	ENSP00000498464.1:p.Leu183Val
ENST00000652390.1:c.673C>G	ENSP00000498858.1:p.Leu225Val
ENST00000652476.1:n.1420C>G
ENST00000652644.1:c.367C>G	ENSP00000498496.1:p.Leu123Val
ENST00000652682.1:c.811C>G	ENSP00000498288.1:p.Leu271Val
ENST00000652685.1:n.1107C>G
ENST00000369776.8:c.664C>G	ENSP00000358791.4:p.Leu222Val
ENST00000426231.5:c.751C>G
ENST00000475699.5:c.712C>G	ENSP00000419854.2:p.Leu238Val
ENST00000494912.5:n.1443C>G
ENST00000498029.1:n.212C>G
ENST00000601016.5:c.754C>G	ENSP00000469981.1:p.Leu252Val
ENST00000612460.4:c.664C>G	ENSP00000481037.1:p.Leu222Val
ENST00000613002.4:c.622C>G	ENSP00000478154.1:p.Leu208Val
ENST00000615986.4:c.*482C>G	ENSP00000480133.1:n.*482C>G
NM_000116.4:c.754C>G	NP_000107.1:p.Leu252Val
NM_001303465.1:c.766C>G	NP_001290394.1:p.Leu256Val
NM_181311.3:c.664C>G	NP_851828.1:p.Leu222Val
NM_181312.3:c.712C>G	NP_851829.1:p.Leu238Val
NM_181313.3:c.622C>G	NP_851830.1:p.Leu208Val
NR_024048.2:n.1096C>G
XM_006724836.1:c.808C>G	XP_006724899.1:p.Leu270Val
XM_006724837.1:c.793C>G	XP_006724900.1:p.Leu265Val
XM_006724839.1:c.676C>G	XP_006724902.1:p.Leu226Val
XM_006724841.2:c.547C>G	XP_006724904.1:p.Leu183Val
XM_006724842.2:c.457C>G	XP_006724905.1:p.Leu153Val
XM_011531189.1:c.595C>G	XP_011529491.1:p.Leu199Val
XM_011531190.1:c.547C>G	XP_011529492.1:p.Leu183Val
XM_011531191.1:c.478C>G	XP_011529493.1:p.Leu160Val
XM_011531192.1:c.475C>G	XP_011529494.1:p.Leu159Val
XR_938511.1:n.1102C>G
XM_006724841.4:c.547C>G	XP_006724904.1:p.Leu183Val
XM_006724842.4:c.457C>G	XP_006724905.1:p.Leu153Val
XM_011531191.2:c.478C>G	XP_011529493.1:p.Leu160Val
XM_017029761.1:c.739C>G	XP_016885250.1:p.Leu247Val
XM_017029762.1:c.718C>G	XP_016885251.1:p.Leu240Val
XM_017029763.1:c.541C>G	XP_016885252.1:p.Leu181Val
XM_017029764.1:c.475C>G	XP_016885253.1:p.Leu159Val
XM_017029765.2:c.415C>G	XP_016885254.1:p.Leu139Val
XM_024452431.1:c.712C>G	XP_024308199.1:p.Leu238Val
NM_000116.5:c.754C>G MANE Select	NP_000107.1:p.Leu252Val
NM_001303465.2:c.766C>G	NP_001290394.1:p.Leu256Val
NM_181311.4:c.664C>G	NP_851828.1:p.Leu222Val
NM_181312.4:c.712C>G	NP_851829.1:p.Leu238Val
NM_181313.4:c.622C>G	NP_851830.1:p.Leu208Val
NR_024048.3:n.1075C>G