Canonical Allele Identifier: CA415185486

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1573G>C
ENST00000698317.1:n.2189G>C
ENST00000698318.1:n.1972G>C
ENST00000698319.1:n.1335G>C
ENST00000698320.1:n.1223G>C
ENST00000470127.2:n.1236G>C
ENST00000475699.6:c.727G>C	ENSP00000419854.3:p.Glu243Gln
ENST00000483674.3:n.645G>C
ENST00000601016.6:c.763G>C MANE Select	ENSP00000469981.1:p.Glu255Gln
ENST00000612012.5:c.721G>C	ENSP00000482070.2:p.Glu241Gln
ENST00000612460.5:c.673G>C	ENSP00000481037.1:p.Glu225Gln
ENST00000614595.2:n.2110G>C
ENST00000615658.5:n.1352G>C
ENST00000616020.5:c.775G>C	ENSP00000483636.2:p.Glu259Gln
ENST00000617701.5:c.*776G>C	ENSP00000481645.1:n.*776G>C
ENST00000651139.1:c.-21G>C	ENSP00000498957.1:n.-21G>C
ENST00000652354.1:c.445G>C	ENSP00000498734.1:p.Glu149Gln
ENST00000652358.1:c.556G>C	ENSP00000498464.1:p.Glu186Gln
ENST00000652390.1:c.682G>C	ENSP00000498858.1:p.Glu228Gln
ENST00000652476.1:n.1429G>C
ENST00000652644.1:c.376G>C	ENSP00000498496.1:p.Glu126Gln
ENST00000652682.1:c.820G>C	ENSP00000498288.1:p.Glu274Gln
ENST00000652685.1:n.1116G>C
ENST00000369776.8:c.673G>C	ENSP00000358791.4:p.Glu225Gln
ENST00000426231.5:c.760G>C
ENST00000475699.5:c.721G>C	ENSP00000419854.2:p.Glu241Gln
ENST00000494912.5:n.1452G>C
ENST00000498029.1:n.221G>C
ENST00000601016.5:c.763G>C	ENSP00000469981.1:p.Glu255Gln
ENST00000612460.4:c.673G>C	ENSP00000481037.1:p.Glu225Gln
ENST00000613002.4:c.631G>C	ENSP00000478154.1:p.Glu211Gln
ENST00000615986.4:c.*491G>C	ENSP00000480133.1:n.*491G>C
NM_000116.4:c.763G>C	NP_000107.1:p.Glu255Gln
NM_001303465.1:c.775G>C	NP_001290394.1:p.Glu259Gln
NM_181311.3:c.673G>C	NP_851828.1:p.Glu225Gln
NM_181312.3:c.721G>C	NP_851829.1:p.Glu241Gln
NM_181313.3:c.631G>C	NP_851830.1:p.Glu211Gln
NR_024048.2:n.1105G>C
XM_006724836.1:c.817G>C	XP_006724899.1:p.Glu273Gln
XM_006724837.1:c.802G>C	XP_006724900.1:p.Glu268Gln
XM_006724839.1:c.685G>C	XP_006724902.1:p.Glu229Gln
XM_006724841.2:c.556G>C	XP_006724904.1:p.Glu186Gln
XM_006724842.2:c.466G>C	XP_006724905.1:p.Glu156Gln
XM_011531189.1:c.604G>C	XP_011529491.1:p.Glu202Gln
XM_011531190.1:c.556G>C	XP_011529492.1:p.Glu186Gln
XM_011531191.1:c.487G>C	XP_011529493.1:p.Glu163Gln
XM_011531192.1:c.484G>C	XP_011529494.1:p.Glu162Gln
XR_938511.1:n.1111G>C
XM_006724841.4:c.556G>C	XP_006724904.1:p.Glu186Gln
XM_006724842.4:c.466G>C	XP_006724905.1:p.Glu156Gln
XM_011531191.2:c.487G>C	XP_011529493.1:p.Glu163Gln
XM_017029761.1:c.748G>C	XP_016885250.1:p.Glu250Gln
XM_017029762.1:c.727G>C	XP_016885251.1:p.Glu243Gln
XM_017029763.1:c.550G>C	XP_016885252.1:p.Glu184Gln
XM_017029764.1:c.484G>C	XP_016885253.1:p.Glu162Gln
XM_017029765.2:c.424G>C	XP_016885254.1:p.Glu142Gln
XM_024452431.1:c.721G>C	XP_024308199.1:p.Glu241Gln
NM_000116.5:c.763G>C MANE Select	NP_000107.1:p.Glu255Gln
NM_001303465.2:c.775G>C	NP_001290394.1:p.Glu259Gln
NM_181311.4:c.673G>C	NP_851828.1:p.Glu225Gln
NM_181312.4:c.721G>C	NP_851829.1:p.Glu241Gln
NM_181313.4:c.631G>C	NP_851830.1:p.Glu211Gln
NR_024048.3:n.1084G>C