Canonical Allele Identifier: CA415185494

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649062G>C (hg19) ; chrX:g.154420723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420723G>C , CM000685.2:g.154420723G>C	GRCh38
NC_000023.10:g.153649062G>C , CM000685.1:g.153649062G>C	GRCh37
NC_000023.9:g.153302256G>C	NCBI36
NG_009634.1:g.14186G>C
NG_009634.2:g.14189G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1575G>C
ENST00000698317.1:n.2191G>C
ENST00000698318.1:n.1974G>C
ENST00000698319.1:n.1337G>C
ENST00000698320.1:n.1225G>C
ENST00000470127.2:n.1238G>C
ENST00000475699.6:c.729G>C	ENSP00000419854.3:p.Glu243Asp
ENST00000483674.3:n.647G>C
ENST00000601016.6:c.765G>C MANE Select	ENSP00000469981.1:p.Glu255Asp
ENST00000612012.5:c.723G>C	ENSP00000482070.2:p.Glu241Asp
ENST00000612460.5:c.675G>C	ENSP00000481037.1:p.Glu225Asp
ENST00000614595.2:n.2112G>C
ENST00000615658.5:n.1354G>C
ENST00000616020.5:c.777G>C	ENSP00000483636.2:p.Glu259Asp
ENST00000617701.5:c.*778G>C	ENSP00000481645.1:n.*778G>C
ENST00000651139.1:c.-19G>C	ENSP00000498957.1:n.-19G>C
ENST00000652354.1:c.447G>C	ENSP00000498734.1:p.Glu149Asp
ENST00000652358.1:c.558G>C	ENSP00000498464.1:p.Glu186Asp
ENST00000652390.1:c.684G>C	ENSP00000498858.1:p.Glu228Asp
ENST00000652476.1:n.1431G>C
ENST00000652644.1:c.378G>C	ENSP00000498496.1:p.Glu126Asp
ENST00000652682.1:c.822G>C	ENSP00000498288.1:p.Glu274Asp
ENST00000652685.1:n.1118G>C
ENST00000369776.8:c.675G>C	ENSP00000358791.4:p.Glu225Asp
ENST00000426231.5:c.762G>C
ENST00000475699.5:c.723G>C	ENSP00000419854.2:p.Glu241Asp
ENST00000494912.5:n.1454G>C
ENST00000498029.1:n.223G>C
ENST00000601016.5:c.765G>C	ENSP00000469981.1:p.Glu255Asp
ENST00000612460.4:c.675G>C	ENSP00000481037.1:p.Glu225Asp
ENST00000613002.4:c.633G>C	ENSP00000478154.1:p.Glu211Asp
ENST00000615986.4:c.*493G>C	ENSP00000480133.1:n.*493G>C
NM_000116.4:c.765G>C	NP_000107.1:p.Glu255Asp
NM_001303465.1:c.777G>C	NP_001290394.1:p.Glu259Asp
NM_181311.3:c.675G>C	NP_851828.1:p.Glu225Asp
NM_181312.3:c.723G>C	NP_851829.1:p.Glu241Asp
NM_181313.3:c.633G>C	NP_851830.1:p.Glu211Asp
NR_024048.2:n.1107G>C
XM_006724836.1:c.819G>C	XP_006724899.1:p.Glu273Asp
XM_006724837.1:c.804G>C	XP_006724900.1:p.Glu268Asp
XM_006724839.1:c.687G>C	XP_006724902.1:p.Glu229Asp
XM_006724841.2:c.558G>C	XP_006724904.1:p.Glu186Asp
XM_006724842.2:c.468G>C	XP_006724905.1:p.Glu156Asp
XM_011531189.1:c.606G>C	XP_011529491.1:p.Glu202Asp
XM_011531190.1:c.558G>C	XP_011529492.1:p.Glu186Asp
XM_011531191.1:c.489G>C	XP_011529493.1:p.Glu163Asp
XM_011531192.1:c.486G>C	XP_011529494.1:p.Glu162Asp
XR_938511.1:n.1113G>C
XM_006724841.4:c.558G>C	XP_006724904.1:p.Glu186Asp
XM_006724842.4:c.468G>C	XP_006724905.1:p.Glu156Asp
XM_011531191.2:c.489G>C	XP_011529493.1:p.Glu163Asp
XM_017029761.1:c.750G>C	XP_016885250.1:p.Glu250Asp
XM_017029762.1:c.729G>C	XP_016885251.1:p.Glu243Asp
XM_017029763.1:c.552G>C	XP_016885252.1:p.Glu184Asp
XM_017029764.1:c.486G>C	XP_016885253.1:p.Glu162Asp
XM_017029765.2:c.426G>C	XP_016885254.1:p.Glu142Asp
XM_024452431.1:c.723G>C	XP_024308199.1:p.Glu241Asp
NM_000116.5:c.765G>C MANE Select	NP_000107.1:p.Glu255Asp
NM_001303465.2:c.777G>C	NP_001290394.1:p.Glu259Asp
NM_181311.4:c.675G>C	NP_851828.1:p.Glu225Asp
NM_181312.4:c.723G>C	NP_851829.1:p.Glu241Asp
NM_181313.4:c.633G>C	NP_851830.1:p.Glu211Asp
NR_024048.3:n.1086G>C