Canonical Allele Identifier: CA415185684

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420936C>T , CM000685.2:g.154420936C>T	GRCh38
NC_000023.10:g.153649275C>T , CM000685.1:g.153649275C>T	GRCh37
NC_000023.9:g.153302469C>T	NCBI36
NG_009634.1:g.14399C>T
NG_009634.2:g.14402C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000116.5:c.811C>T MANE Select	NP_000107.1:p.Gln271Ter
ENST00000601016.6:c.811C>T MANE Select	ENSP00000469981.1:p.Gln271Ter
NM_000116.4:c.811C>T	NP_000107.1:p.Gln271Ter
NM_001303465.1:c.823C>T	NP_001290394.1:p.Gln275Ter
NM_001303465.2:c.823C>T	NP_001290394.1:p.Gln275Ter
NM_181311.3:c.721C>T	NP_851828.1:p.Gln241Ter
NM_181311.4:c.721C>T	NP_851828.1:p.Gln241Ter
NM_181312.3:c.769C>T	NP_851829.1:p.Gln257Ter
NM_181312.4:c.769C>T	NP_851829.1:p.Gln257Ter
NM_181313.3:c.679C>T	NP_851830.1:p.Gln227Ter
NM_181313.4:c.679C>T	NP_851830.1:p.Gln227Ter
NR_024048.2:n.1153C>T
NR_024048.3:n.1132C>T
ENST00000369776.8:c.721C>T	ENSP00000358791.4:p.Gln241Ter
ENST00000426231.5:c.808C>T
ENST00000470127.2:n.1284C>T
ENST00000475699.5:c.769C>T	ENSP00000419854.2:p.Gln257Ter
ENST00000475699.6:c.775C>T	ENSP00000419854.3:p.Gln259Ter
ENST00000483674.3:n.693C>T
ENST00000494912.5:n.1500C>T
ENST00000498029.1:n.269C>T
ENST00000601016.5:c.811C>T	ENSP00000469981.1:p.Gln271Ter
ENST00000612012.5:c.769C>T	ENSP00000482070.2:p.Gln257Ter
ENST00000612460.4:c.721C>T	ENSP00000481037.1:p.Gln241Ter
ENST00000612460.5:c.721C>T	ENSP00000481037.1:p.Gln241Ter
ENST00000613002.4:c.679C>T	ENSP00000478154.1:p.Gln227Ter
ENST00000614595.2:n.2158C>T
ENST00000615658.5:n.1400C>T
ENST00000615986.4:c.*539C>T	ENSP00000480133.1:n.*539C>T
ENST00000616020.5:c.823C>T	ENSP00000483636.2:p.Gln275Ter
ENST00000617701.5:c.*824C>T	ENSP00000481645.1:n.*824C>T
ENST00000651139.1:c.28C>T	ENSP00000498957.1:p.Gln10Ter
ENST00000652354.1:c.493C>T	ENSP00000498734.1:p.Gln165Ter
ENST00000652358.1:c.604C>T	ENSP00000498464.1:p.Gln202Ter
ENST00000652390.1:c.730C>T	ENSP00000498858.1:p.Gln244Ter
ENST00000652476.1:n.1477C>T
ENST00000652644.1:c.424C>T	ENSP00000498496.1:p.Gln142Ter
ENST00000652682.1:c.868C>T	ENSP00000498288.1:p.Gln290Ter
ENST00000652685.1:n.1164C>T
ENST00000698234.1:n.1621C>T
ENST00000698317.1:n.2237C>T
ENST00000698318.1:n.2020C>T
ENST00000698319.1:n.1383C>T
ENST00000698320.1:n.1438C>T
XM_006724836.1:c.865C>T	XP_006724899.1:p.Gln289Ter
XM_006724837.1:c.850C>T	XP_006724900.1:p.Gln284Ter
XM_006724839.1:c.733C>T	XP_006724902.1:p.Gln245Ter
XM_006724841.2:c.604C>T	XP_006724904.1:p.Gln202Ter
XM_006724841.4:c.604C>T	XP_006724904.1:p.Gln202Ter
XM_006724842.2:c.514C>T	XP_006724905.1:p.Gln172Ter
XM_006724842.4:c.514C>T	XP_006724905.1:p.Gln172Ter
XM_011531189.1:c.652C>T	XP_011529491.1:p.Gln218Ter
XM_011531190.1:c.604C>T	XP_011529492.1:p.Gln202Ter
XM_011531191.1:c.535C>T	XP_011529493.1:p.Gln179Ter
XM_011531191.2:c.535C>T	XP_011529493.1:p.Gln179Ter
XM_011531192.1:c.532C>T	XP_011529494.1:p.Gln178Ter
XM_017029761.1:c.796C>T	XP_016885250.1:p.Gln266Ter
XM_017029762.1:c.775C>T	XP_016885251.1:p.Gln259Ter
XM_017029763.1:c.598C>T	XP_016885252.1:p.Gln200Ter
XM_017029764.1:c.532C>T	XP_016885253.1:p.Gln178Ter
XM_017029765.2:c.472C>T	XP_016885254.1:p.Gln158Ter
XM_024452431.1:c.769C>T	XP_024308199.1:p.Gln257Ter
XR_938511.1:n.1159C>T