Canonical Allele Identifier: CA415185178

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648578C>A (hg19) ; chrX:g.154420239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420239C>A , CM000685.2:g.154420239C>A	GRCh38
NC_000023.10:g.153648578C>A , CM000685.1:g.153648578C>A	GRCh37
NC_000023.9:g.153301772C>A	NCBI36
NG_009634.1:g.13702C>A
NG_009634.2:g.13705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1484C>A
ENST00000698317.1:n.2100C>A
ENST00000698318.1:n.1883C>A
ENST00000698319.1:n.1246C>A
ENST00000698320.1:n.1134C>A
ENST00000470127.2:n.1147C>A
ENST00000475699.6:c.638C>A	ENSP00000419854.3:p.Pro213Gln
ENST00000483674.3:n.556C>A
ENST00000601016.6:c.674C>A MANE Select	ENSP00000469981.1:p.Pro225Gln
ENST00000612012.5:c.632C>A	ENSP00000482070.2:p.Pro211Gln
ENST00000612460.5:c.584C>A	ENSP00000481037.1:p.Pro195Gln
ENST00000614595.2:n.2021C>A
ENST00000615658.5:n.1263C>A
ENST00000616020.5:c.686C>A	ENSP00000483636.2:p.Pro229Gln
ENST00000617701.5:c.*687C>A	ENSP00000481645.1:n.*687C>A
ENST00000652354.1:c.356C>A	ENSP00000498734.1:p.Pro119Gln
ENST00000652358.1:c.467C>A	ENSP00000498464.1:p.Pro156Gln
ENST00000652390.1:c.593C>A	ENSP00000498858.1:p.Pro198Gln
ENST00000652476.1:n.1340C>A
ENST00000652644.1:c.287C>A	ENSP00000498496.1:p.Pro96Gln
ENST00000652682.1:c.731C>A	ENSP00000498288.1:p.Pro244Gln
ENST00000652685.1:n.1027C>A
ENST00000369776.8:c.584C>A	ENSP00000358791.4:p.Pro195Gln
ENST00000426231.5:c.671C>A
ENST00000475699.5:c.632C>A	ENSP00000419854.2:p.Pro211Gln
ENST00000494912.5:n.1363C>A
ENST00000498029.1:n.132C>A
ENST00000601016.5:c.674C>A	ENSP00000469981.1:p.Pro225Gln
ENST00000612460.4:c.584C>A	ENSP00000481037.1:p.Pro195Gln
ENST00000613002.4:c.542C>A	ENSP00000478154.1:p.Pro181Gln
ENST00000615986.4:c.*402C>A	ENSP00000480133.1:n.*402C>A
NM_000116.4:c.674C>A	NP_000107.1:p.Pro225Gln
NM_001303465.1:c.686C>A	NP_001290394.1:p.Pro229Gln
NM_181311.3:c.584C>A	NP_851828.1:p.Pro195Gln
NM_181312.3:c.632C>A	NP_851829.1:p.Pro211Gln
NM_181313.3:c.542C>A	NP_851830.1:p.Pro181Gln
NR_024048.2:n.1016C>A
XM_006724836.1:c.728C>A	XP_006724899.1:p.Pro243Gln
XM_006724837.1:c.713C>A	XP_006724900.1:p.Pro238Gln
XM_006724839.1:c.596C>A	XP_006724902.1:p.Pro199Gln
XM_006724841.2:c.467C>A	XP_006724904.1:p.Pro156Gln
XM_006724842.2:c.377C>A	XP_006724905.1:p.Pro126Gln
XM_011531189.1:c.515C>A	XP_011529491.1:p.Pro172Gln
XM_011531190.1:c.467C>A	XP_011529492.1:p.Pro156Gln
XM_011531191.1:c.398C>A	XP_011529493.1:p.Pro133Gln
XM_011531192.1:c.395C>A	XP_011529494.1:p.Pro132Gln
XR_938511.1:n.1022C>A
XM_006724841.4:c.467C>A	XP_006724904.1:p.Pro156Gln
XM_006724842.4:c.377C>A	XP_006724905.1:p.Pro126Gln
XM_011531191.2:c.398C>A	XP_011529493.1:p.Pro133Gln
XM_017029761.1:c.659C>A	XP_016885250.1:p.Pro220Gln
XM_017029762.1:c.638C>A	XP_016885251.1:p.Pro213Gln
XM_017029763.1:c.461C>A	XP_016885252.1:p.Pro154Gln
XM_017029764.1:c.395C>A	XP_016885253.1:p.Pro132Gln
XM_017029765.2:c.335C>A	XP_016885254.1:p.Pro112Gln
XM_024452431.1:c.632C>A	XP_024308199.1:p.Pro211Gln
NM_000116.5:c.674C>A MANE Select	NP_000107.1:p.Pro225Gln
NM_001303465.2:c.686C>A	NP_001290394.1:p.Pro229Gln
NM_181311.4:c.584C>A	NP_851828.1:p.Pro195Gln
NM_181312.4:c.632C>A	NP_851829.1:p.Pro211Gln
NM_181313.4:c.542C>A	NP_851830.1:p.Pro181Gln
NR_024048.3:n.995C>A