Canonical Allele Identifier: CA415185334

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2690921
• ClinVar RCV Id: RCV003486392
• MyVariant Identifiers: chrX:g.153649002C>G (hg19) ; chrX:g.154420663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420663C>G , CM000685.2:g.154420663C>G	GRCh38
NC_000023.10:g.153649002C>G , CM000685.1:g.153649002C>G	GRCh37
NC_000023.9:g.153302196C>G	NCBI36
NG_009634.1:g.14126C>G
NG_009634.2:g.14129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1515C>G
ENST00000698317.1:n.2131C>G
ENST00000698318.1:n.1914C>G
ENST00000698319.1:n.1277C>G
ENST00000698320.1:n.1165C>G
ENST00000470127.2:n.1178C>G
ENST00000475699.6:c.669C>G	ENSP00000419854.3:p.Ile223Met
ENST00000483674.3:n.587C>G
ENST00000601016.6:c.705C>G MANE Select	ENSP00000469981.1:p.Ile235Met
ENST00000612012.5:c.663C>G	ENSP00000482070.2:p.Ile221Met
ENST00000612460.5:c.615C>G	ENSP00000481037.1:p.Ile205Met
ENST00000614595.2:n.2052C>G
ENST00000615658.5:n.1294C>G
ENST00000616020.5:c.717C>G	ENSP00000483636.2:p.Ile239Met
ENST00000617701.5:c.*718C>G	ENSP00000481645.1:n.*718C>G
ENST00000651139.1:c.-79C>G	ENSP00000498957.1:n.-79C>G
ENST00000652354.1:c.387C>G	ENSP00000498734.1:p.Ile129Met
ENST00000652358.1:c.498C>G	ENSP00000498464.1:p.Ile166Met
ENST00000652390.1:c.624C>G	ENSP00000498858.1:p.Ile208Met
ENST00000652476.1:n.1371C>G
ENST00000652644.1:c.318C>G	ENSP00000498496.1:p.Ile106Met
ENST00000652682.1:c.762C>G	ENSP00000498288.1:p.Ile254Met
ENST00000652685.1:n.1058C>G
ENST00000369776.8:c.615C>G	ENSP00000358791.4:p.Ile205Met
ENST00000426231.5:c.702C>G
ENST00000475699.5:c.663C>G	ENSP00000419854.2:p.Ile221Met
ENST00000494912.5:n.1394C>G
ENST00000498029.1:n.163C>G
ENST00000601016.5:c.705C>G	ENSP00000469981.1:p.Ile235Met
ENST00000612460.4:c.615C>G	ENSP00000481037.1:p.Ile205Met
ENST00000613002.4:c.573C>G	ENSP00000478154.1:p.Ile191Met
ENST00000615986.4:c.*433C>G	ENSP00000480133.1:n.*433C>G
NM_000116.4:c.705C>G	NP_000107.1:p.Ile235Met
NM_001303465.1:c.717C>G	NP_001290394.1:p.Ile239Met
NM_181311.3:c.615C>G	NP_851828.1:p.Ile205Met
NM_181312.3:c.663C>G	NP_851829.1:p.Ile221Met
NM_181313.3:c.573C>G	NP_851830.1:p.Ile191Met
NR_024048.2:n.1047C>G
XM_006724836.1:c.759C>G	XP_006724899.1:p.Ile253Met
XM_006724837.1:c.744C>G	XP_006724900.1:p.Ile248Met
XM_006724839.1:c.627C>G	XP_006724902.1:p.Ile209Met
XM_006724841.2:c.498C>G	XP_006724904.1:p.Ile166Met
XM_006724842.2:c.408C>G	XP_006724905.1:p.Ile136Met
XM_011531189.1:c.546C>G	XP_011529491.1:p.Ile182Met
XM_011531190.1:c.498C>G	XP_011529492.1:p.Ile166Met
XM_011531191.1:c.429C>G	XP_011529493.1:p.Ile143Met
XM_011531192.1:c.426C>G	XP_011529494.1:p.Ile142Met
XR_938511.1:n.1053C>G
XM_006724841.4:c.498C>G	XP_006724904.1:p.Ile166Met
XM_006724842.4:c.408C>G	XP_006724905.1:p.Ile136Met
XM_011531191.2:c.429C>G	XP_011529493.1:p.Ile143Met
XM_017029761.1:c.690C>G	XP_016885250.1:p.Ile230Met
XM_017029762.1:c.669C>G	XP_016885251.1:p.Ile223Met
XM_017029763.1:c.492C>G	XP_016885252.1:p.Ile164Met
XM_017029764.1:c.426C>G	XP_016885253.1:p.Ile142Met
XM_017029765.2:c.366C>G	XP_016885254.1:p.Ile122Met
XM_024452431.1:c.663C>G	XP_024308199.1:p.Ile221Met
NM_000116.5:c.705C>G MANE Select	NP_000107.1:p.Ile235Met
NM_001303465.2:c.717C>G	NP_001290394.1:p.Ile239Met
NM_181311.4:c.615C>G	NP_851828.1:p.Ile205Met
NM_181312.4:c.663C>G	NP_851829.1:p.Ile221Met
NM_181313.4:c.573C>G	NP_851830.1:p.Ile191Met
NR_024048.3:n.1026C>G