Canonical Allele Identifier: CA415183957

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648076T>A (hg19) ; chrX:g.154419737T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419737T>A , CM000685.2:g.154419737T>A	GRCh38
NC_000023.10:g.153648076T>A , CM000685.1:g.153648076T>A	GRCh37
NC_000023.9:g.153301270T>A	NCBI36
NG_009634.1:g.13200T>A
NG_009634.2:g.13203T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1099T>A
ENST00000698317.1:n.1715T>A
ENST00000698318.1:n.1498T>A
ENST00000698319.1:n.861T>A
ENST00000698320.1:n.749T>A
ENST00000470127.2:n.762T>A
ENST00000475699.6:c.538T>A	ENSP00000419854.3:p.Phe180Ile
ENST00000483674.3:n.456T>A
ENST00000601016.6:c.574T>A MANE Select	ENSP00000469981.1:p.Phe192Ile
ENST00000612012.5:c.541+114T>A	ENSP00000482070.2:n.541+114T>A
ENST00000612460.5:c.484T>A	ENSP00000481037.1:p.Phe162Ile
ENST00000614595.2:n.1921T>A
ENST00000615658.5:n.878T>A
ENST00000616020.5:c.595+114T>A	ENSP00000483636.2:n.595+114T>A
ENST00000617701.5:c.*302T>A	ENSP00000481645.1:n.*302T>A
ENST00000652354.1:c.265+114T>A	ENSP00000498734.1:n.265+114T>A
ENST00000652358.1:c.367T>A	ENSP00000498464.1:p.Phe123Ile
ENST00000652390.1:c.493T>A	ENSP00000498858.1:p.Phe165Ile
ENST00000652476.1:n.955T>A
ENST00000652644.1:c.187T>A	ENSP00000498496.1:p.Phe63Ile
ENST00000652682.1:c.631T>A	ENSP00000498288.1:p.Phe211Ile
ENST00000652685.1:n.642T>A
ENST00000369776.8:c.376+114T>A	ENSP00000358791.4:n.376+114T>A
ENST00000426231.5:c.571T>A
ENST00000439735.2:c.481T>A	ENSP00000398193.1:p.Phe161Ile
ENST00000470127.1:n.153T>A
ENST00000475699.5:c.541+114T>A	ENSP00000419854.2:n.541+114T>A
ENST00000476679.5:n.568T>A
ENST00000483780.5:n.339T>A
ENST00000494912.5:n.1263T>A
ENST00000601016.5:c.574T>A	ENSP00000469981.1:p.Phe192Ile
ENST00000612012.4:c.538T>A	ENSP00000482070.1:p.Phe180Ile
ENST00000612460.4:c.484T>A	ENSP00000481037.1:p.Phe162Ile
ENST00000613002.4:c.451+114T>A	ENSP00000478154.1:n.451+114T>A
ENST00000613634.4:n.804T>A
ENST00000615658.4:n.978T>A
ENST00000615986.4:c.*302T>A	ENSP00000480133.1:n.*302T>A
ENST00000620808.4:c.*170-295T>A	ENSP00000479311.1:n.*170-295T>A
NM_000116.4:c.574T>A	NP_000107.1:p.Phe192Ile
NM_001303465.1:c.595+114T>A	NP_001290394.1:n.595+114T>A
NM_181311.3:c.484T>A	NP_851828.1:p.Phe162Ile
NM_181312.3:c.541+114T>A	NP_851829.1:n.541+114T>A
NM_181313.3:c.451+114T>A	NP_851830.1:n.451+114T>A
NR_024048.2:n.916T>A
XM_006724836.1:c.628T>A	XP_006724899.1:p.Phe210Ile
XM_006724837.1:c.505+114T>A	XP_006724900.1:n.505+114T>A
XM_006724839.1:c.505+114T>A	XP_006724902.1:n.505+114T>A
XM_006724841.2:c.367T>A	XP_006724904.1:p.Phe123Ile
XM_006724842.2:c.277T>A	XP_006724905.1:p.Phe93Ile
XM_011531189.1:c.425-295T>A	XP_011529491.1:n.425-295T>A
XM_011531190.1:c.367T>A	XP_011529492.1:p.Phe123Ile
XM_011531191.1:c.298T>A	XP_011529493.1:p.Phe100Ile
XM_011531192.1:c.295T>A	XP_011529494.1:p.Phe99Ile
XR_938511.1:n.922T>A
XM_006724841.4:c.367T>A	XP_006724904.1:p.Phe123Ile
XM_006724842.4:c.277T>A	XP_006724905.1:p.Phe93Ile
XM_011531191.2:c.298T>A	XP_011529493.1:p.Phe100Ile
XM_017029761.1:c.451+114T>A	XP_016885250.1:n.451+114T>A
XM_017029762.1:c.538T>A	XP_016885251.1:p.Phe180Ile
XM_017029763.1:c.371-295T>A	XP_016885252.1:n.371-295T>A
XM_017029764.1:c.295T>A	XP_016885253.1:p.Phe99Ile
XM_017029765.2:c.244+114T>A	XP_016885254.1:n.244+114T>A
XM_024452431.1:c.425-295T>A	XP_024308199.1:n.425-295T>A
NM_000116.5:c.574T>A MANE Select	NP_000107.1:p.Phe192Ile
NM_001303465.2:c.595+114T>A	NP_001290394.1:n.595+114T>A
NM_181311.4:c.484T>A	NP_851828.1:p.Phe162Ile
NM_181312.4:c.541+114T>A	NP_851829.1:n.541+114T>A
NM_181313.4:c.451+114T>A	NP_851830.1:n.451+114T>A
NR_024048.3:n.895T>A