Canonical Allele Identifier: CA415184304

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648409A>T (hg19) ; chrX:g.154420070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420070A>T , CM000685.2:g.154420070A>T	GRCh38
NC_000023.10:g.153648409A>T , CM000685.1:g.153648409A>T	GRCh37
NC_000023.9:g.153301603A>T	NCBI36
NG_009634.1:g.13533A>T
NG_009634.2:g.13536A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1432A>T
ENST00000698317.1:n.2048A>T
ENST00000698318.1:n.1831A>T
ENST00000698319.1:n.1194A>T
ENST00000698320.1:n.1082A>T
ENST00000470127.2:n.1095A>T
ENST00000475699.6:c.586A>T	ENSP00000419854.3:p.Ile196Phe
ENST00000483674.3:n.504A>T
ENST00000601016.6:c.622A>T MANE Select	ENSP00000469981.1:p.Ile208Phe
ENST00000612012.5:c.580A>T	ENSP00000482070.2:p.Ile194Phe
ENST00000612460.5:c.532A>T	ENSP00000481037.1:p.Ile178Phe
ENST00000614595.2:n.1969A>T
ENST00000615658.5:n.1211A>T
ENST00000616020.5:c.634A>T	ENSP00000483636.2:p.Ile212Phe
ENST00000617701.5:c.*635A>T	ENSP00000481645.1:n.*635A>T
ENST00000652354.1:c.304A>T	ENSP00000498734.1:p.Ile102Phe
ENST00000652358.1:c.415A>T	ENSP00000498464.1:p.Ile139Phe
ENST00000652390.1:c.541A>T	ENSP00000498858.1:p.Ile181Phe
ENST00000652476.1:n.1288A>T
ENST00000652644.1:c.235A>T	ENSP00000498496.1:p.Ile79Phe
ENST00000652682.1:c.679A>T	ENSP00000498288.1:p.Ile227Phe
ENST00000652685.1:n.975A>T
ENST00000369776.8:c.415A>T	ENSP00000358791.4:p.Ile139Phe
ENST00000426231.5:c.619A>T
ENST00000439735.2:c.529A>T	ENSP00000398193.1:p.Ile177Phe
ENST00000470127.1:n.201A>T
ENST00000475699.5:c.580A>T	ENSP00000419854.2:p.Ile194Phe
ENST00000494912.5:n.1311A>T
ENST00000498029.1:n.80A>T
ENST00000601016.5:c.622A>T	ENSP00000469981.1:p.Ile208Phe
ENST00000612012.4:c.586A>T	ENSP00000482070.1:p.Ile196Phe
ENST00000612460.4:c.532A>T	ENSP00000481037.1:p.Ile178Phe
ENST00000613002.4:c.490A>T	ENSP00000478154.1:p.Ile164Phe
ENST00000615658.4:n.1311A>T
ENST00000615986.4:c.*350A>T	ENSP00000480133.1:n.*350A>T
ENST00000620808.4:c.*208A>T	ENSP00000479311.1:n.*208A>T
NM_000116.4:c.622A>T	NP_000107.1:p.Ile208Phe
NM_001303465.1:c.634A>T	NP_001290394.1:p.Ile212Phe
NM_181311.3:c.532A>T	NP_851828.1:p.Ile178Phe
NM_181312.3:c.580A>T	NP_851829.1:p.Ile194Phe
NM_181313.3:c.490A>T	NP_851830.1:p.Ile164Phe
NR_024048.2:n.964A>T
XM_006724836.1:c.676A>T	XP_006724899.1:p.Ile226Phe
XM_006724837.1:c.544A>T	XP_006724900.1:p.Ile182Phe
XM_006724839.1:c.544A>T	XP_006724902.1:p.Ile182Phe
XM_006724841.2:c.415A>T	XP_006724904.1:p.Ile139Phe
XM_006724842.2:c.325A>T	XP_006724905.1:p.Ile109Phe
XM_011531189.1:c.463A>T	XP_011529491.1:p.Ile155Phe
XM_011531190.1:c.415A>T	XP_011529492.1:p.Ile139Phe
XM_011531191.1:c.346A>T	XP_011529493.1:p.Ile116Phe
XM_011531192.1:c.343A>T	XP_011529494.1:p.Ile115Phe
XR_938511.1:n.970A>T
XM_006724841.4:c.415A>T	XP_006724904.1:p.Ile139Phe
XM_006724842.4:c.325A>T	XP_006724905.1:p.Ile109Phe
XM_011531191.2:c.346A>T	XP_011529493.1:p.Ile116Phe
XM_017029761.1:c.490A>T	XP_016885250.1:p.Ile164Phe
XM_017029762.1:c.586A>T	XP_016885251.1:p.Ile196Phe
XM_017029763.1:c.409A>T	XP_016885252.1:p.Ile137Phe
XM_017029764.1:c.343A>T	XP_016885253.1:p.Ile115Phe
XM_017029765.2:c.283A>T	XP_016885254.1:p.Ile95Phe
XM_024452431.1:c.463A>T	XP_024308199.1:p.Ile155Phe
NM_000116.5:c.622A>T MANE Select	NP_000107.1:p.Ile208Phe
NM_001303465.2:c.634A>T	NP_001290394.1:p.Ile212Phe
NM_181311.4:c.532A>T	NP_851828.1:p.Ile178Phe
NM_181312.4:c.580A>T	NP_851829.1:p.Ile194Phe
NM_181313.4:c.490A>T	NP_851830.1:p.Ile164Phe
NR_024048.3:n.943A>T