Canonical Allele Identifier: CA415185174

Gene: TAFAZZIN

Linked Data

• COSMIC: COSM3964957
• MyVariant Identifiers: chrX:g.153648577C>G (hg19) ; chrX:g.154420238C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1483C>G
ENST00000698317.1:n.2099C>G
ENST00000698318.1:n.1882C>G
ENST00000698319.1:n.1245C>G
ENST00000698320.1:n.1133C>G
ENST00000470127.2:n.1146C>G
ENST00000475699.6:c.637C>G	ENSP00000419854.3:p.Pro213Ala
ENST00000483674.3:n.555C>G
ENST00000601016.6:c.673C>G MANE Select	ENSP00000469981.1:p.Pro225Ala
ENST00000612012.5:c.631C>G	ENSP00000482070.2:p.Pro211Ala
ENST00000612460.5:c.583C>G	ENSP00000481037.1:p.Pro195Ala
ENST00000614595.2:n.2020C>G
ENST00000615658.5:n.1262C>G
ENST00000616020.5:c.685C>G	ENSP00000483636.2:p.Pro229Ala
ENST00000617701.5:c.*686C>G	ENSP00000481645.1:n.*686C>G
ENST00000652354.1:c.355C>G	ENSP00000498734.1:p.Pro119Ala
ENST00000652358.1:c.466C>G	ENSP00000498464.1:p.Pro156Ala
ENST00000652390.1:c.592C>G	ENSP00000498858.1:p.Pro198Ala
ENST00000652476.1:n.1339C>G
ENST00000652644.1:c.286C>G	ENSP00000498496.1:p.Pro96Ala
ENST00000652682.1:c.730C>G	ENSP00000498288.1:p.Pro244Ala
ENST00000652685.1:n.1026C>G
ENST00000369776.8:c.583C>G	ENSP00000358791.4:p.Pro195Ala
ENST00000426231.5:c.670C>G
ENST00000475699.5:c.631C>G	ENSP00000419854.2:p.Pro211Ala
ENST00000494912.5:n.1362C>G
ENST00000498029.1:n.131C>G
ENST00000601016.5:c.673C>G	ENSP00000469981.1:p.Pro225Ala
ENST00000612460.4:c.583C>G	ENSP00000481037.1:p.Pro195Ala
ENST00000613002.4:c.541C>G	ENSP00000478154.1:p.Pro181Ala
ENST00000615986.4:c.*401C>G	ENSP00000480133.1:n.*401C>G
NM_000116.4:c.673C>G	NP_000107.1:p.Pro225Ala
NM_001303465.1:c.685C>G	NP_001290394.1:p.Pro229Ala
NM_181311.3:c.583C>G	NP_851828.1:p.Pro195Ala
NM_181312.3:c.631C>G	NP_851829.1:p.Pro211Ala
NM_181313.3:c.541C>G	NP_851830.1:p.Pro181Ala
NR_024048.2:n.1015C>G
XM_006724836.1:c.727C>G	XP_006724899.1:p.Pro243Ala
XM_006724837.1:c.712C>G	XP_006724900.1:p.Pro238Ala
XM_006724839.1:c.595C>G	XP_006724902.1:p.Pro199Ala
XM_006724841.2:c.466C>G	XP_006724904.1:p.Pro156Ala
XM_006724842.2:c.376C>G	XP_006724905.1:p.Pro126Ala
XM_011531189.1:c.514C>G	XP_011529491.1:p.Pro172Ala
XM_011531190.1:c.466C>G	XP_011529492.1:p.Pro156Ala
XM_011531191.1:c.397C>G	XP_011529493.1:p.Pro133Ala
XM_011531192.1:c.394C>G	XP_011529494.1:p.Pro132Ala
XR_938511.1:n.1021C>G
XM_006724841.4:c.466C>G	XP_006724904.1:p.Pro156Ala
XM_006724842.4:c.376C>G	XP_006724905.1:p.Pro126Ala
XM_011531191.2:c.397C>G	XP_011529493.1:p.Pro133Ala
XM_017029761.1:c.658C>G	XP_016885250.1:p.Pro220Ala
XM_017029762.1:c.637C>G	XP_016885251.1:p.Pro213Ala
XM_017029763.1:c.460C>G	XP_016885252.1:p.Pro154Ala
XM_017029764.1:c.394C>G	XP_016885253.1:p.Pro132Ala
XM_017029765.2:c.334C>G	XP_016885254.1:p.Pro112Ala
XM_024452431.1:c.631C>G	XP_024308199.1:p.Pro211Ala
NM_000116.5:c.673C>G MANE Select	NP_000107.1:p.Pro225Ala
NM_001303465.2:c.685C>G	NP_001290394.1:p.Pro229Ala
NM_181311.4:c.583C>G	NP_851828.1:p.Pro195Ala
NM_181312.4:c.631C>G	NP_851829.1:p.Pro211Ala
NM_181313.4:c.541C>G	NP_851830.1:p.Pro181Ala
NR_024048.3:n.994C>G