Canonical Allele Identifier: CA415184060

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648373A>T (hg19) ; chrX:g.154420034A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420034A>T , CM000685.2:g.154420034A>T	GRCh38
NC_000023.10:g.153648373A>T , CM000685.1:g.153648373A>T	GRCh37
NC_000023.9:g.153301567A>T	NCBI36
NG_009634.1:g.13497A>T
NG_009634.2:g.13500A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1396A>T
ENST00000698317.1:n.2012A>T
ENST00000698318.1:n.1795A>T
ENST00000698319.1:n.1158A>T
ENST00000698320.1:n.1046A>T
ENST00000470127.2:n.1059A>T
ENST00000475699.6:c.550A>T	ENSP00000419854.3:p.Ile184Phe
ENST00000483674.3:n.468A>T
ENST00000601016.6:c.586A>T MANE Select	ENSP00000469981.1:p.Ile196Phe
ENST00000612012.5:c.544A>T	ENSP00000482070.2:p.Ile182Phe
ENST00000612460.5:c.496A>T	ENSP00000481037.1:p.Ile166Phe
ENST00000614595.2:n.1933A>T
ENST00000615658.5:n.1175A>T
ENST00000616020.5:c.598A>T	ENSP00000483636.2:p.Ile200Phe
ENST00000617701.5:c.*599A>T	ENSP00000481645.1:n.*599A>T
ENST00000652354.1:c.268A>T	ENSP00000498734.1:p.Ile90Phe
ENST00000652358.1:c.379A>T	ENSP00000498464.1:p.Ile127Phe
ENST00000652390.1:c.505A>T	ENSP00000498858.1:p.Ile169Phe
ENST00000652476.1:n.1252A>T
ENST00000652644.1:c.199A>T	ENSP00000498496.1:p.Ile67Phe
ENST00000652682.1:c.643A>T	ENSP00000498288.1:p.Ile215Phe
ENST00000652685.1:n.939A>T
ENST00000369776.8:c.379A>T	ENSP00000358791.4:p.Ile127Phe
ENST00000426231.5:c.583A>T
ENST00000439735.2:c.493A>T	ENSP00000398193.1:p.Ile165Phe
ENST00000470127.1:n.165A>T
ENST00000475699.5:c.544A>T	ENSP00000419854.2:p.Ile182Phe
ENST00000494912.5:n.1275A>T
ENST00000498029.1:n.44A>T
ENST00000601016.5:c.586A>T	ENSP00000469981.1:p.Ile196Phe
ENST00000612012.4:c.550A>T	ENSP00000482070.1:p.Ile184Phe
ENST00000612460.4:c.496A>T	ENSP00000481037.1:p.Ile166Phe
ENST00000613002.4:c.454A>T	ENSP00000478154.1:p.Ile152Phe
ENST00000613634.4:n.1101A>T
ENST00000615658.4:n.1275A>T
ENST00000615986.4:c.*314A>T	ENSP00000480133.1:n.*314A>T
ENST00000620808.4:c.*172A>T	ENSP00000479311.1:n.*172A>T
NM_000116.4:c.586A>T	NP_000107.1:p.Ile196Phe
NM_001303465.1:c.598A>T	NP_001290394.1:p.Ile200Phe
NM_181311.3:c.496A>T	NP_851828.1:p.Ile166Phe
NM_181312.3:c.544A>T	NP_851829.1:p.Ile182Phe
NM_181313.3:c.454A>T	NP_851830.1:p.Ile152Phe
NR_024048.2:n.928A>T
XM_006724836.1:c.640A>T	XP_006724899.1:p.Ile214Phe
XM_006724837.1:c.508A>T	XP_006724900.1:p.Ile170Phe
XM_006724839.1:c.508A>T	XP_006724902.1:p.Ile170Phe
XM_006724841.2:c.379A>T	XP_006724904.1:p.Ile127Phe
XM_006724842.2:c.289A>T	XP_006724905.1:p.Ile97Phe
XM_011531189.1:c.427A>T	XP_011529491.1:p.Ile143Phe
XM_011531190.1:c.379A>T	XP_011529492.1:p.Ile127Phe
XM_011531191.1:c.310A>T	XP_011529493.1:p.Ile104Phe
XM_011531192.1:c.307A>T	XP_011529494.1:p.Ile103Phe
XR_938511.1:n.934A>T
XM_006724841.4:c.379A>T	XP_006724904.1:p.Ile127Phe
XM_006724842.4:c.289A>T	XP_006724905.1:p.Ile97Phe
XM_011531191.2:c.310A>T	XP_011529493.1:p.Ile104Phe
XM_017029761.1:c.454A>T	XP_016885250.1:p.Ile152Phe
XM_017029762.1:c.550A>T	XP_016885251.1:p.Ile184Phe
XM_017029763.1:c.373A>T	XP_016885252.1:p.Ile125Phe
XM_017029764.1:c.307A>T	XP_016885253.1:p.Ile103Phe
XM_017029765.2:c.247A>T	XP_016885254.1:p.Ile83Phe
XM_024452431.1:c.427A>T	XP_024308199.1:p.Ile143Phe
NM_000116.5:c.586A>T MANE Select	NP_000107.1:p.Ile196Phe
NM_001303465.2:c.598A>T	NP_001290394.1:p.Ile200Phe
NM_181311.4:c.496A>T	NP_851828.1:p.Ile166Phe
NM_181312.4:c.544A>T	NP_851829.1:p.Ile182Phe
NM_181313.4:c.454A>T	NP_851830.1:p.Ile152Phe
NR_024048.3:n.907A>T