Canonical Allele Identifier: CA415185384

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1531A>T
ENST00000698317.1:n.2147A>T
ENST00000698318.1:n.1930A>T
ENST00000698319.1:n.1293A>T
ENST00000698320.1:n.1181A>T
ENST00000470127.2:n.1194A>T
ENST00000475699.6:c.685A>T	ENSP00000419854.3:p.Lys229Ter
ENST00000483674.3:n.603A>T
ENST00000601016.6:c.721A>T MANE Select	ENSP00000469981.1:p.Lys241Ter
ENST00000612012.5:c.679A>T	ENSP00000482070.2:p.Lys227Ter
ENST00000612460.5:c.631A>T	ENSP00000481037.1:p.Lys211Ter
ENST00000614595.2:n.2068A>T
ENST00000615658.5:n.1310A>T
ENST00000616020.5:c.733A>T	ENSP00000483636.2:p.Lys245Ter
ENST00000617701.5:c.*734A>T	ENSP00000481645.1:n.*734A>T
ENST00000651139.1:c.-63A>T	ENSP00000498957.1:n.-63A>T
ENST00000652354.1:c.403A>T	ENSP00000498734.1:p.Lys135Ter
ENST00000652358.1:c.514A>T	ENSP00000498464.1:p.Lys172Ter
ENST00000652390.1:c.640A>T	ENSP00000498858.1:p.Lys214Ter
ENST00000652476.1:n.1387A>T
ENST00000652644.1:c.334A>T	ENSP00000498496.1:p.Lys112Ter
ENST00000652682.1:c.778A>T	ENSP00000498288.1:p.Lys260Ter
ENST00000652685.1:n.1074A>T
ENST00000369776.8:c.631A>T	ENSP00000358791.4:p.Lys211Ter
ENST00000426231.5:c.718A>T
ENST00000475699.5:c.679A>T	ENSP00000419854.2:p.Lys227Ter
ENST00000494912.5:n.1410A>T
ENST00000498029.1:n.179A>T
ENST00000601016.5:c.721A>T	ENSP00000469981.1:p.Lys241Ter
ENST00000612460.4:c.631A>T	ENSP00000481037.1:p.Lys211Ter
ENST00000613002.4:c.589A>T	ENSP00000478154.1:p.Lys197Ter
ENST00000615986.4:c.*449A>T	ENSP00000480133.1:n.*449A>T
NM_000116.4:c.721A>T	NP_000107.1:p.Lys241Ter
NM_001303465.1:c.733A>T	NP_001290394.1:p.Lys245Ter
NM_181311.3:c.631A>T	NP_851828.1:p.Lys211Ter
NM_181312.3:c.679A>T	NP_851829.1:p.Lys227Ter
NM_181313.3:c.589A>T	NP_851830.1:p.Lys197Ter
NR_024048.2:n.1063A>T
XM_006724836.1:c.775A>T	XP_006724899.1:p.Lys259Ter
XM_006724837.1:c.760A>T	XP_006724900.1:p.Lys254Ter
XM_006724839.1:c.643A>T	XP_006724902.1:p.Lys215Ter
XM_006724841.2:c.514A>T	XP_006724904.1:p.Lys172Ter
XM_006724842.2:c.424A>T	XP_006724905.1:p.Lys142Ter
XM_011531189.1:c.562A>T	XP_011529491.1:p.Lys188Ter
XM_011531190.1:c.514A>T	XP_011529492.1:p.Lys172Ter
XM_011531191.1:c.445A>T	XP_011529493.1:p.Lys149Ter
XM_011531192.1:c.442A>T	XP_011529494.1:p.Lys148Ter
XR_938511.1:n.1069A>T
XM_006724841.4:c.514A>T	XP_006724904.1:p.Lys172Ter
XM_006724842.4:c.424A>T	XP_006724905.1:p.Lys142Ter
XM_011531191.2:c.445A>T	XP_011529493.1:p.Lys149Ter
XM_017029761.1:c.706A>T	XP_016885250.1:p.Lys236Ter
XM_017029762.1:c.685A>T	XP_016885251.1:p.Lys229Ter
XM_017029763.1:c.508A>T	XP_016885252.1:p.Lys170Ter
XM_017029764.1:c.442A>T	XP_016885253.1:p.Lys148Ter
XM_017029765.2:c.382A>T	XP_016885254.1:p.Lys128Ter
XM_024452431.1:c.679A>T	XP_024308199.1:p.Lys227Ter
NM_000116.5:c.721A>T MANE Select	NP_000107.1:p.Lys241Ter
NM_001303465.2:c.733A>T	NP_001290394.1:p.Lys245Ter
NM_181311.4:c.631A>T	NP_851828.1:p.Lys211Ter
NM_181312.4:c.679A>T	NP_851829.1:p.Lys227Ter
NM_181313.4:c.589A>T	NP_851830.1:p.Lys197Ter
NR_024048.3:n.1042A>T