Canonical Allele Identifier: CA415185374

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649014C>G (hg19) ; chrX:g.154420675C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420675C>G , CM000685.2:g.154420675C>G	GRCh38
NC_000023.10:g.153649014C>G , CM000685.1:g.153649014C>G	GRCh37
NC_000023.9:g.153302208C>G	NCBI36
NG_009634.1:g.14138C>G
NG_009634.2:g.14141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1527C>G
ENST00000698317.1:n.2143C>G
ENST00000698318.1:n.1926C>G
ENST00000698319.1:n.1289C>G
ENST00000698320.1:n.1177C>G
ENST00000470127.2:n.1190C>G
ENST00000475699.6:c.681C>G	ENSP00000419854.3:p.Ile227Met
ENST00000483674.3:n.599C>G
ENST00000601016.6:c.717C>G MANE Select	ENSP00000469981.1:p.Ile239Met
ENST00000612012.5:c.675C>G	ENSP00000482070.2:p.Ile225Met
ENST00000612460.5:c.627C>G	ENSP00000481037.1:p.Ile209Met
ENST00000614595.2:n.2064C>G
ENST00000615658.5:n.1306C>G
ENST00000616020.5:c.729C>G	ENSP00000483636.2:p.Ile243Met
ENST00000617701.5:c.*730C>G	ENSP00000481645.1:n.*730C>G
ENST00000651139.1:c.-67C>G	ENSP00000498957.1:n.-67C>G
ENST00000652354.1:c.399C>G	ENSP00000498734.1:p.Ile133Met
ENST00000652358.1:c.510C>G	ENSP00000498464.1:p.Ile170Met
ENST00000652390.1:c.636C>G	ENSP00000498858.1:p.Ile212Met
ENST00000652476.1:n.1383C>G
ENST00000652644.1:c.330C>G	ENSP00000498496.1:p.Ile110Met
ENST00000652682.1:c.774C>G	ENSP00000498288.1:p.Ile258Met
ENST00000652685.1:n.1070C>G
ENST00000369776.8:c.627C>G	ENSP00000358791.4:p.Ile209Met
ENST00000426231.5:c.714C>G
ENST00000475699.5:c.675C>G	ENSP00000419854.2:p.Ile225Met
ENST00000494912.5:n.1406C>G
ENST00000498029.1:n.175C>G
ENST00000601016.5:c.717C>G	ENSP00000469981.1:p.Ile239Met
ENST00000612460.4:c.627C>G	ENSP00000481037.1:p.Ile209Met
ENST00000613002.4:c.585C>G	ENSP00000478154.1:p.Ile195Met
ENST00000615986.4:c.*445C>G	ENSP00000480133.1:n.*445C>G
NM_000116.4:c.717C>G	NP_000107.1:p.Ile239Met
NM_001303465.1:c.729C>G	NP_001290394.1:p.Ile243Met
NM_181311.3:c.627C>G	NP_851828.1:p.Ile209Met
NM_181312.3:c.675C>G	NP_851829.1:p.Ile225Met
NM_181313.3:c.585C>G	NP_851830.1:p.Ile195Met
NR_024048.2:n.1059C>G
XM_006724836.1:c.771C>G	XP_006724899.1:p.Ile257Met
XM_006724837.1:c.756C>G	XP_006724900.1:p.Ile252Met
XM_006724839.1:c.639C>G	XP_006724902.1:p.Ile213Met
XM_006724841.2:c.510C>G	XP_006724904.1:p.Ile170Met
XM_006724842.2:c.420C>G	XP_006724905.1:p.Ile140Met
XM_011531189.1:c.558C>G	XP_011529491.1:p.Ile186Met
XM_011531190.1:c.510C>G	XP_011529492.1:p.Ile170Met
XM_011531191.1:c.441C>G	XP_011529493.1:p.Ile147Met
XM_011531192.1:c.438C>G	XP_011529494.1:p.Ile146Met
XR_938511.1:n.1065C>G
XM_006724841.4:c.510C>G	XP_006724904.1:p.Ile170Met
XM_006724842.4:c.420C>G	XP_006724905.1:p.Ile140Met
XM_011531191.2:c.441C>G	XP_011529493.1:p.Ile147Met
XM_017029761.1:c.702C>G	XP_016885250.1:p.Ile234Met
XM_017029762.1:c.681C>G	XP_016885251.1:p.Ile227Met
XM_017029763.1:c.504C>G	XP_016885252.1:p.Ile168Met
XM_017029764.1:c.438C>G	XP_016885253.1:p.Ile146Met
XM_017029765.2:c.378C>G	XP_016885254.1:p.Ile126Met
XM_024452431.1:c.675C>G	XP_024308199.1:p.Ile225Met
NM_000116.5:c.717C>G MANE Select	NP_000107.1:p.Ile239Met
NM_001303465.2:c.729C>G	NP_001290394.1:p.Ile243Met
NM_181311.4:c.627C>G	NP_851828.1:p.Ile209Met
NM_181312.4:c.675C>G	NP_851829.1:p.Ile225Met
NM_181313.4:c.585C>G	NP_851830.1:p.Ile195Met
NR_024048.3:n.1038C>G