Canonical Allele Identifier: CA415184324

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648412A>T (hg19) ; chrX:g.154420073A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420073A>T , CM000685.2:g.154420073A>T	GRCh38
NC_000023.10:g.153648412A>T , CM000685.1:g.153648412A>T	GRCh37
NC_000023.9:g.153301606A>T	NCBI36
NG_009634.1:g.13536A>T
NG_009634.2:g.13539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1435A>T
ENST00000698317.1:n.2051A>T
ENST00000698318.1:n.1834A>T
ENST00000698319.1:n.1197A>T
ENST00000698320.1:n.1085A>T
ENST00000470127.2:n.1098A>T
ENST00000475699.6:c.589A>T	ENSP00000419854.3:p.Ile197Phe
ENST00000483674.3:n.507A>T
ENST00000601016.6:c.625A>T MANE Select	ENSP00000469981.1:p.Ile209Phe
ENST00000612012.5:c.583A>T	ENSP00000482070.2:p.Ile195Phe
ENST00000612460.5:c.535A>T	ENSP00000481037.1:p.Ile179Phe
ENST00000614595.2:n.1972A>T
ENST00000615658.5:n.1214A>T
ENST00000616020.5:c.637A>T	ENSP00000483636.2:p.Ile213Phe
ENST00000617701.5:c.*638A>T	ENSP00000481645.1:n.*638A>T
ENST00000652354.1:c.307A>T	ENSP00000498734.1:p.Ile103Phe
ENST00000652358.1:c.418A>T	ENSP00000498464.1:p.Ile140Phe
ENST00000652390.1:c.544A>T	ENSP00000498858.1:p.Ile182Phe
ENST00000652476.1:n.1291A>T
ENST00000652644.1:c.238A>T	ENSP00000498496.1:p.Ile80Phe
ENST00000652682.1:c.682A>T	ENSP00000498288.1:p.Ile228Phe
ENST00000652685.1:n.978A>T
ENST00000369776.8:c.418A>T	ENSP00000358791.4:p.Ile140Phe
ENST00000426231.5:c.622A>T
ENST00000439735.2:c.532A>T	ENSP00000398193.1:p.Ile178Phe
ENST00000470127.1:n.204A>T
ENST00000475699.5:c.583A>T	ENSP00000419854.2:p.Ile195Phe
ENST00000494912.5:n.1314A>T
ENST00000498029.1:n.83A>T
ENST00000601016.5:c.625A>T	ENSP00000469981.1:p.Ile209Phe
ENST00000612012.4:c.589A>T
ENST00000612460.4:c.535A>T	ENSP00000481037.1:p.Ile179Phe
ENST00000613002.4:c.493A>T	ENSP00000478154.1:p.Ile165Phe
ENST00000615658.4:n.1314A>T
ENST00000615986.4:c.*353A>T	ENSP00000480133.1:n.*353A>T
ENST00000620808.4:c.*211A>T	ENSP00000479311.1:n.*211A>T
NM_000116.4:c.625A>T	NP_000107.1:p.Ile209Phe
NM_001303465.1:c.637A>T	NP_001290394.1:p.Ile213Phe
NM_181311.3:c.535A>T	NP_851828.1:p.Ile179Phe
NM_181312.3:c.583A>T	NP_851829.1:p.Ile195Phe
NM_181313.3:c.493A>T	NP_851830.1:p.Ile165Phe
NR_024048.2:n.967A>T
XM_006724836.1:c.679A>T	XP_006724899.1:p.Ile227Phe
XM_006724837.1:c.547A>T	XP_006724900.1:p.Ile183Phe
XM_006724839.1:c.547A>T	XP_006724902.1:p.Ile183Phe
XM_006724841.2:c.418A>T	XP_006724904.1:p.Ile140Phe
XM_006724842.2:c.328A>T	XP_006724905.1:p.Ile110Phe
XM_011531189.1:c.466A>T	XP_011529491.1:p.Ile156Phe
XM_011531190.1:c.418A>T	XP_011529492.1:p.Ile140Phe
XM_011531191.1:c.349A>T	XP_011529493.1:p.Ile117Phe
XM_011531192.1:c.346A>T	XP_011529494.1:p.Ile116Phe
XR_938511.1:n.973A>T
XM_006724841.4:c.418A>T	XP_006724904.1:p.Ile140Phe
XM_006724842.4:c.328A>T	XP_006724905.1:p.Ile110Phe
XM_011531191.2:c.349A>T	XP_011529493.1:p.Ile117Phe
XM_017029761.1:c.493A>T	XP_016885250.1:p.Ile165Phe
XM_017029762.1:c.589A>T	XP_016885251.1:p.Ile197Phe
XM_017029763.1:c.412A>T	XP_016885252.1:p.Ile138Phe
XM_017029764.1:c.346A>T	XP_016885253.1:p.Ile116Phe
XM_017029765.2:c.286A>T	XP_016885254.1:p.Ile96Phe
XM_024452431.1:c.466A>T	XP_024308199.1:p.Ile156Phe
NM_000116.5:c.625A>T MANE Select	NP_000107.1:p.Ile209Phe
NM_001303465.2:c.637A>T	NP_001290394.1:p.Ile213Phe
NM_181311.4:c.535A>T	NP_851828.1:p.Ile179Phe
NM_181312.4:c.583A>T	NP_851829.1:p.Ile195Phe
NM_181313.4:c.493A>T	NP_851830.1:p.Ile165Phe
NR_024048.3:n.946A>T