Canonical Allele Identifier: CA415185175

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648577C>T (hg19) ; chrX:g.154420238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420238C>T , CM000685.2:g.154420238C>T	GRCh38
NC_000023.10:g.153648577C>T , CM000685.1:g.153648577C>T	GRCh37
NC_000023.9:g.153301771C>T	NCBI36
NG_009634.1:g.13701C>T
NG_009634.2:g.13704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1483C>T
ENST00000698317.1:n.2099C>T
ENST00000698318.1:n.1882C>T
ENST00000698319.1:n.1245C>T
ENST00000698320.1:n.1133C>T
ENST00000470127.2:n.1146C>T
ENST00000475699.6:c.637C>T	ENSP00000419854.3:p.Pro213Ser
ENST00000483674.3:n.555C>T
ENST00000601016.6:c.673C>T MANE Select	ENSP00000469981.1:p.Pro225Ser
ENST00000612012.5:c.631C>T	ENSP00000482070.2:p.Pro211Ser
ENST00000612460.5:c.583C>T	ENSP00000481037.1:p.Pro195Ser
ENST00000614595.2:n.2020C>T
ENST00000615658.5:n.1262C>T
ENST00000616020.5:c.685C>T	ENSP00000483636.2:p.Pro229Ser
ENST00000617701.5:c.*686C>T	ENSP00000481645.1:n.*686C>T
ENST00000652354.1:c.355C>T	ENSP00000498734.1:p.Pro119Ser
ENST00000652358.1:c.466C>T	ENSP00000498464.1:p.Pro156Ser
ENST00000652390.1:c.592C>T	ENSP00000498858.1:p.Pro198Ser
ENST00000652476.1:n.1339C>T
ENST00000652644.1:c.286C>T	ENSP00000498496.1:p.Pro96Ser
ENST00000652682.1:c.730C>T	ENSP00000498288.1:p.Pro244Ser
ENST00000652685.1:n.1026C>T
ENST00000369776.8:c.583C>T	ENSP00000358791.4:p.Pro195Ser
ENST00000426231.5:c.670C>T
ENST00000475699.5:c.631C>T	ENSP00000419854.2:p.Pro211Ser
ENST00000494912.5:n.1362C>T
ENST00000498029.1:n.131C>T
ENST00000601016.5:c.673C>T	ENSP00000469981.1:p.Pro225Ser
ENST00000612460.4:c.583C>T	ENSP00000481037.1:p.Pro195Ser
ENST00000613002.4:c.541C>T	ENSP00000478154.1:p.Pro181Ser
ENST00000615986.4:c.*401C>T	ENSP00000480133.1:n.*401C>T
NM_000116.4:c.673C>T	NP_000107.1:p.Pro225Ser
NM_001303465.1:c.685C>T	NP_001290394.1:p.Pro229Ser
NM_181311.3:c.583C>T	NP_851828.1:p.Pro195Ser
NM_181312.3:c.631C>T	NP_851829.1:p.Pro211Ser
NM_181313.3:c.541C>T	NP_851830.1:p.Pro181Ser
NR_024048.2:n.1015C>T
XM_006724836.1:c.727C>T	XP_006724899.1:p.Pro243Ser
XM_006724837.1:c.712C>T	XP_006724900.1:p.Pro238Ser
XM_006724839.1:c.595C>T	XP_006724902.1:p.Pro199Ser
XM_006724841.2:c.466C>T	XP_006724904.1:p.Pro156Ser
XM_006724842.2:c.376C>T	XP_006724905.1:p.Pro126Ser
XM_011531189.1:c.514C>T	XP_011529491.1:p.Pro172Ser
XM_011531190.1:c.466C>T	XP_011529492.1:p.Pro156Ser
XM_011531191.1:c.397C>T	XP_011529493.1:p.Pro133Ser
XM_011531192.1:c.394C>T	XP_011529494.1:p.Pro132Ser
XR_938511.1:n.1021C>T
XM_006724841.4:c.466C>T	XP_006724904.1:p.Pro156Ser
XM_006724842.4:c.376C>T	XP_006724905.1:p.Pro126Ser
XM_011531191.2:c.397C>T	XP_011529493.1:p.Pro133Ser
XM_017029761.1:c.658C>T	XP_016885250.1:p.Pro220Ser
XM_017029762.1:c.637C>T	XP_016885251.1:p.Pro213Ser
XM_017029763.1:c.460C>T	XP_016885252.1:p.Pro154Ser
XM_017029764.1:c.394C>T	XP_016885253.1:p.Pro132Ser
XM_017029765.2:c.334C>T	XP_016885254.1:p.Pro112Ser
XM_024452431.1:c.631C>T	XP_024308199.1:p.Pro211Ser
NM_000116.5:c.673C>T MANE Select	NP_000107.1:p.Pro225Ser
NM_001303465.2:c.685C>T	NP_001290394.1:p.Pro229Ser
NM_181311.4:c.583C>T	NP_851828.1:p.Pro195Ser
NM_181312.4:c.631C>T	NP_851829.1:p.Pro211Ser
NM_181313.4:c.541C>T	NP_851830.1:p.Pro181Ser
NR_024048.3:n.994C>T