Canonical Allele Identifier: CA337288171

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420093C>T , CM000685.2:g.154420093C>T	GRCh38
NC_000023.10:g.153648432C>T , CM000685.1:g.153648432C>T	GRCh37
NC_000023.9:g.153301626C>T	NCBI36
NG_009634.1:g.13556C>T
NG_009634.2:g.13559C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000116.5:c.645C>T MANE Select	NP_000107.1:p.Val215=
ENST00000601016.6:c.645C>T MANE Select	ENSP00000469981.1:p.Val215=
NM_000116.4:c.645C>T	NP_000107.1:p.Val215=
NM_001303465.1:c.657C>T	NP_001290394.1:p.Val219=
NM_001303465.2:c.657C>T	NP_001290394.1:p.Val219=
NM_181311.3:c.555C>T	NP_851828.1:p.Val185=
NM_181311.4:c.555C>T	NP_851828.1:p.Val185=
NM_181312.3:c.603C>T	NP_851829.1:p.Val201=
NM_181312.4:c.603C>T	NP_851829.1:p.Val201=
NM_181313.3:c.513C>T	NP_851830.1:p.Val171=
NM_181313.4:c.513C>T	NP_851830.1:p.Val171=
NR_024048.2:n.987C>T
NR_024048.3:n.966C>T
ENST00000369776.8:c.438C>T	ENSP00000358791.4:p.Val146=
ENST00000426231.5:c.642C>T
ENST00000439735.2:c.552C>T	ENSP00000398193.1:p.Val184=
ENST00000470127.1:n.224C>T
ENST00000470127.2:n.1118C>T
ENST00000475699.5:c.603C>T	ENSP00000419854.2:p.Val201=
ENST00000475699.6:c.609C>T	ENSP00000419854.3:p.Val203=
ENST00000483674.3:n.527C>T
ENST00000494912.5:n.1334C>T
ENST00000498029.1:n.103C>T
ENST00000601016.5:c.645C>T	ENSP00000469981.1:p.Val215=
ENST00000612012.5:c.603C>T	ENSP00000482070.2:p.Val201=
ENST00000612460.4:c.555C>T	ENSP00000481037.1:p.Val185=
ENST00000612460.5:c.555C>T	ENSP00000481037.1:p.Val185=
ENST00000613002.4:c.513C>T	ENSP00000478154.1:p.Val171=
ENST00000614595.2:n.1992C>T
ENST00000615658.5:n.1234C>T
ENST00000615986.4:c.*373C>T	ENSP00000480133.1:n.*373C>T
ENST00000616020.5:c.657C>T	ENSP00000483636.2:p.Val219=
ENST00000617701.5:c.*658C>T	ENSP00000481645.1:n.*658C>T
ENST00000652354.1:c.327C>T	ENSP00000498734.1:p.Val109=
ENST00000652358.1:c.438C>T	ENSP00000498464.1:p.Val146=
ENST00000652390.1:c.564C>T	ENSP00000498858.1:p.Val188=
ENST00000652476.1:n.1311C>T
ENST00000652644.1:c.258C>T	ENSP00000498496.1:p.Val86=
ENST00000652682.1:c.702C>T	ENSP00000498288.1:p.Val234=
ENST00000652685.1:n.998C>T
ENST00000698234.1:n.1455C>T
ENST00000698317.1:n.2071C>T
ENST00000698318.1:n.1854C>T
ENST00000698319.1:n.1217C>T
ENST00000698320.1:n.1105C>T
XM_006724836.1:c.699C>T	XP_006724899.1:p.Val233=
XM_006724837.1:c.567C>T	XP_006724900.1:p.Val189=
XM_006724839.1:c.567C>T	XP_006724902.1:p.Val189=
XM_006724841.2:c.438C>T	XP_006724904.1:p.Val146=
XM_006724841.4:c.438C>T	XP_006724904.1:p.Val146=
XM_006724842.2:c.348C>T	XP_006724905.1:p.Val116=
XM_006724842.4:c.348C>T	XP_006724905.1:p.Val116=
XM_011531189.1:c.486C>T	XP_011529491.1:p.Val162=
XM_011531190.1:c.438C>T	XP_011529492.1:p.Val146=
XM_011531191.1:c.369C>T	XP_011529493.1:p.Val123=
XM_011531191.2:c.369C>T	XP_011529493.1:p.Val123=
XM_011531192.1:c.366C>T	XP_011529494.1:p.Val122=
XM_017029761.1:c.513C>T	XP_016885250.1:p.Val171=
XM_017029762.1:c.609C>T	XP_016885251.1:p.Val203=
XM_017029763.1:c.432C>T	XP_016885252.1:p.Val144=
XM_017029764.1:c.366C>T	XP_016885253.1:p.Val122=
XM_017029765.2:c.306C>T	XP_016885254.1:p.Val102=
XM_024452431.1:c.486C>T	XP_024308199.1:p.Val162=
XR_938511.1:n.993C>T