Canonical Allele Identifier: CA415185488

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649060G>T (hg19) ; chrX:g.154420721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420721G>T , CM000685.2:g.154420721G>T	GRCh38
NC_000023.10:g.153649060G>T , CM000685.1:g.153649060G>T	GRCh37
NC_000023.9:g.153302254G>T	NCBI36
NG_009634.1:g.14184G>T
NG_009634.2:g.14187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1573G>T
ENST00000698317.1:n.2189G>T
ENST00000698318.1:n.1972G>T
ENST00000698319.1:n.1335G>T
ENST00000698320.1:n.1223G>T
ENST00000470127.2:n.1236G>T
ENST00000475699.6:c.727G>T	ENSP00000419854.3:p.Glu243Ter
ENST00000483674.3:n.645G>T
ENST00000601016.6:c.763G>T MANE Select	ENSP00000469981.1:p.Glu255Ter
ENST00000612012.5:c.721G>T	ENSP00000482070.2:p.Glu241Ter
ENST00000612460.5:c.673G>T	ENSP00000481037.1:p.Glu225Ter
ENST00000614595.2:n.2110G>T
ENST00000615658.5:n.1352G>T
ENST00000616020.5:c.775G>T	ENSP00000483636.2:p.Glu259Ter
ENST00000617701.5:c.*776G>T	ENSP00000481645.1:n.*776G>T
ENST00000651139.1:c.-21G>T	ENSP00000498957.1:n.-21G>T
ENST00000652354.1:c.445G>T	ENSP00000498734.1:p.Glu149Ter
ENST00000652358.1:c.556G>T	ENSP00000498464.1:p.Glu186Ter
ENST00000652390.1:c.682G>T	ENSP00000498858.1:p.Glu228Ter
ENST00000652476.1:n.1429G>T
ENST00000652644.1:c.376G>T	ENSP00000498496.1:p.Glu126Ter
ENST00000652682.1:c.820G>T	ENSP00000498288.1:p.Glu274Ter
ENST00000652685.1:n.1116G>T
ENST00000369776.8:c.673G>T	ENSP00000358791.4:p.Glu225Ter
ENST00000426231.5:c.760G>T
ENST00000475699.5:c.721G>T	ENSP00000419854.2:p.Glu241Ter
ENST00000494912.5:n.1452G>T
ENST00000498029.1:n.221G>T
ENST00000601016.5:c.763G>T	ENSP00000469981.1:p.Glu255Ter
ENST00000612460.4:c.673G>T	ENSP00000481037.1:p.Glu225Ter
ENST00000613002.4:c.631G>T	ENSP00000478154.1:p.Glu211Ter
ENST00000615986.4:c.*491G>T	ENSP00000480133.1:n.*491G>T
NM_000116.4:c.763G>T	NP_000107.1:p.Glu255Ter
NM_001303465.1:c.775G>T	NP_001290394.1:p.Glu259Ter
NM_181311.3:c.673G>T	NP_851828.1:p.Glu225Ter
NM_181312.3:c.721G>T	NP_851829.1:p.Glu241Ter
NM_181313.3:c.631G>T	NP_851830.1:p.Glu211Ter
NR_024048.2:n.1105G>T
XM_006724836.1:c.817G>T	XP_006724899.1:p.Glu273Ter
XM_006724837.1:c.802G>T	XP_006724900.1:p.Glu268Ter
XM_006724839.1:c.685G>T	XP_006724902.1:p.Glu229Ter
XM_006724841.2:c.556G>T	XP_006724904.1:p.Glu186Ter
XM_006724842.2:c.466G>T	XP_006724905.1:p.Glu156Ter
XM_011531189.1:c.604G>T	XP_011529491.1:p.Glu202Ter
XM_011531190.1:c.556G>T	XP_011529492.1:p.Glu186Ter
XM_011531191.1:c.487G>T	XP_011529493.1:p.Glu163Ter
XM_011531192.1:c.484G>T	XP_011529494.1:p.Glu162Ter
XR_938511.1:n.1111G>T
XM_006724841.4:c.556G>T	XP_006724904.1:p.Glu186Ter
XM_006724842.4:c.466G>T	XP_006724905.1:p.Glu156Ter
XM_011531191.2:c.487G>T	XP_011529493.1:p.Glu163Ter
XM_017029761.1:c.748G>T	XP_016885250.1:p.Glu250Ter
XM_017029762.1:c.727G>T	XP_016885251.1:p.Glu243Ter
XM_017029763.1:c.550G>T	XP_016885252.1:p.Glu184Ter
XM_017029764.1:c.484G>T	XP_016885253.1:p.Glu162Ter
XM_017029765.2:c.424G>T	XP_016885254.1:p.Glu142Ter
XM_024452431.1:c.721G>T	XP_024308199.1:p.Glu241Ter
NM_000116.5:c.763G>T MANE Select	NP_000107.1:p.Glu255Ter
NM_001303465.2:c.775G>T	NP_001290394.1:p.Glu259Ter
NM_181311.4:c.673G>T	NP_851828.1:p.Glu225Ter
NM_181312.4:c.721G>T	NP_851829.1:p.Glu241Ter
NM_181313.4:c.631G>T	NP_851830.1:p.Glu211Ter
NR_024048.3:n.1084G>T