Canonical Allele Identifier: CA415185383

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649018A>G (hg19) ; chrX:g.154420679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420679A>G , CM000685.2:g.154420679A>G	GRCh38
NC_000023.10:g.153649018A>G , CM000685.1:g.153649018A>G	GRCh37
NC_000023.9:g.153302212A>G	NCBI36
NG_009634.1:g.14142A>G
NG_009634.2:g.14145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1531A>G
ENST00000698317.1:n.2147A>G
ENST00000698318.1:n.1930A>G
ENST00000698319.1:n.1293A>G
ENST00000698320.1:n.1181A>G
ENST00000470127.2:n.1194A>G
ENST00000475699.6:c.685A>G	ENSP00000419854.3:p.Lys229Glu
ENST00000483674.3:n.603A>G
ENST00000601016.6:c.721A>G MANE Select	ENSP00000469981.1:p.Lys241Glu
ENST00000612012.5:c.679A>G	ENSP00000482070.2:p.Lys227Glu
ENST00000612460.5:c.631A>G	ENSP00000481037.1:p.Lys211Glu
ENST00000614595.2:n.2068A>G
ENST00000615658.5:n.1310A>G
ENST00000616020.5:c.733A>G	ENSP00000483636.2:p.Lys245Glu
ENST00000617701.5:c.*734A>G	ENSP00000481645.1:n.*734A>G
ENST00000651139.1:c.-63A>G	ENSP00000498957.1:n.-63A>G
ENST00000652354.1:c.403A>G	ENSP00000498734.1:p.Lys135Glu
ENST00000652358.1:c.514A>G	ENSP00000498464.1:p.Lys172Glu
ENST00000652390.1:c.640A>G	ENSP00000498858.1:p.Lys214Glu
ENST00000652476.1:n.1387A>G
ENST00000652644.1:c.334A>G	ENSP00000498496.1:p.Lys112Glu
ENST00000652682.1:c.778A>G	ENSP00000498288.1:p.Lys260Glu
ENST00000652685.1:n.1074A>G
ENST00000369776.8:c.631A>G	ENSP00000358791.4:p.Lys211Glu
ENST00000426231.5:c.718A>G
ENST00000475699.5:c.679A>G	ENSP00000419854.2:p.Lys227Glu
ENST00000494912.5:n.1410A>G
ENST00000498029.1:n.179A>G
ENST00000601016.5:c.721A>G	ENSP00000469981.1:p.Lys241Glu
ENST00000612460.4:c.631A>G	ENSP00000481037.1:p.Lys211Glu
ENST00000613002.4:c.589A>G	ENSP00000478154.1:p.Lys197Glu
ENST00000615986.4:c.*449A>G	ENSP00000480133.1:n.*449A>G
NM_000116.4:c.721A>G	NP_000107.1:p.Lys241Glu
NM_001303465.1:c.733A>G	NP_001290394.1:p.Lys245Glu
NM_181311.3:c.631A>G	NP_851828.1:p.Lys211Glu
NM_181312.3:c.679A>G	NP_851829.1:p.Lys227Glu
NM_181313.3:c.589A>G	NP_851830.1:p.Lys197Glu
NR_024048.2:n.1063A>G
XM_006724836.1:c.775A>G	XP_006724899.1:p.Lys259Glu
XM_006724837.1:c.760A>G	XP_006724900.1:p.Lys254Glu
XM_006724839.1:c.643A>G	XP_006724902.1:p.Lys215Glu
XM_006724841.2:c.514A>G	XP_006724904.1:p.Lys172Glu
XM_006724842.2:c.424A>G	XP_006724905.1:p.Lys142Glu
XM_011531189.1:c.562A>G	XP_011529491.1:p.Lys188Glu
XM_011531190.1:c.514A>G	XP_011529492.1:p.Lys172Glu
XM_011531191.1:c.445A>G	XP_011529493.1:p.Lys149Glu
XM_011531192.1:c.442A>G	XP_011529494.1:p.Lys148Glu
XR_938511.1:n.1069A>G
XM_006724841.4:c.514A>G	XP_006724904.1:p.Lys172Glu
XM_006724842.4:c.424A>G	XP_006724905.1:p.Lys142Glu
XM_011531191.2:c.445A>G	XP_011529493.1:p.Lys149Glu
XM_017029761.1:c.706A>G	XP_016885250.1:p.Lys236Glu
XM_017029762.1:c.685A>G	XP_016885251.1:p.Lys229Glu
XM_017029763.1:c.508A>G	XP_016885252.1:p.Lys170Glu
XM_017029764.1:c.442A>G	XP_016885253.1:p.Lys148Glu
XM_017029765.2:c.382A>G	XP_016885254.1:p.Lys128Glu
XM_024452431.1:c.679A>G	XP_024308199.1:p.Lys227Glu
NM_000116.5:c.721A>G MANE Select	NP_000107.1:p.Lys241Glu
NM_001303465.2:c.733A>G	NP_001290394.1:p.Lys245Glu
NM_181311.4:c.631A>G	NP_851828.1:p.Lys211Glu
NM_181312.4:c.679A>G	NP_851829.1:p.Lys227Glu
NM_181313.4:c.589A>G	NP_851830.1:p.Lys197Glu
NR_024048.3:n.1042A>G