Canonical Allele Identifier: CA415184316

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648411C>G (hg19) ; chrX:g.154420072C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420072C>G , CM000685.2:g.154420072C>G	GRCh38
NC_000023.10:g.153648411C>G , CM000685.1:g.153648411C>G	GRCh37
NC_000023.9:g.153301605C>G	NCBI36
NG_009634.1:g.13535C>G
NG_009634.2:g.13538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1434C>G
ENST00000698317.1:n.2050C>G
ENST00000698318.1:n.1833C>G
ENST00000698319.1:n.1196C>G
ENST00000698320.1:n.1084C>G
ENST00000470127.2:n.1097C>G
ENST00000475699.6:c.588C>G	ENSP00000419854.3:p.Ile196Met
ENST00000483674.3:n.506C>G
ENST00000601016.6:c.624C>G MANE Select	ENSP00000469981.1:p.Ile208Met
ENST00000612012.5:c.582C>G	ENSP00000482070.2:p.Ile194Met
ENST00000612460.5:c.534C>G	ENSP00000481037.1:p.Ile178Met
ENST00000614595.2:n.1971C>G
ENST00000615658.5:n.1213C>G
ENST00000616020.5:c.636C>G	ENSP00000483636.2:p.Ile212Met
ENST00000617701.5:c.*637C>G	ENSP00000481645.1:n.*637C>G
ENST00000652354.1:c.306C>G	ENSP00000498734.1:p.Ile102Met
ENST00000652358.1:c.417C>G	ENSP00000498464.1:p.Ile139Met
ENST00000652390.1:c.543C>G	ENSP00000498858.1:p.Ile181Met
ENST00000652476.1:n.1290C>G
ENST00000652644.1:c.237C>G	ENSP00000498496.1:p.Ile79Met
ENST00000652682.1:c.681C>G	ENSP00000498288.1:p.Ile227Met
ENST00000652685.1:n.977C>G
ENST00000369776.8:c.417C>G	ENSP00000358791.4:p.Ile139Met
ENST00000426231.5:c.621C>G
ENST00000439735.2:c.531C>G	ENSP00000398193.1:p.Ile177Met
ENST00000470127.1:n.203C>G
ENST00000475699.5:c.582C>G	ENSP00000419854.2:p.Ile194Met
ENST00000494912.5:n.1313C>G
ENST00000498029.1:n.82C>G
ENST00000601016.5:c.624C>G	ENSP00000469981.1:p.Ile208Met
ENST00000612012.4:c.588C>G	ENSP00000482070.1:p.Ile196Met
ENST00000612460.4:c.534C>G	ENSP00000481037.1:p.Ile178Met
ENST00000613002.4:c.492C>G	ENSP00000478154.1:p.Ile164Met
ENST00000615658.4:n.1313C>G
ENST00000615986.4:c.*352C>G	ENSP00000480133.1:n.*352C>G
ENST00000620808.4:c.*210C>G	ENSP00000479311.1:n.*210C>G
NM_000116.4:c.624C>G	NP_000107.1:p.Ile208Met
NM_001303465.1:c.636C>G	NP_001290394.1:p.Ile212Met
NM_181311.3:c.534C>G	NP_851828.1:p.Ile178Met
NM_181312.3:c.582C>G	NP_851829.1:p.Ile194Met
NM_181313.3:c.492C>G	NP_851830.1:p.Ile164Met
NR_024048.2:n.966C>G
XM_006724836.1:c.678C>G	XP_006724899.1:p.Ile226Met
XM_006724837.1:c.546C>G	XP_006724900.1:p.Ile182Met
XM_006724839.1:c.546C>G	XP_006724902.1:p.Ile182Met
XM_006724841.2:c.417C>G	XP_006724904.1:p.Ile139Met
XM_006724842.2:c.327C>G	XP_006724905.1:p.Ile109Met
XM_011531189.1:c.465C>G	XP_011529491.1:p.Ile155Met
XM_011531190.1:c.417C>G	XP_011529492.1:p.Ile139Met
XM_011531191.1:c.348C>G	XP_011529493.1:p.Ile116Met
XM_011531192.1:c.345C>G	XP_011529494.1:p.Ile115Met
XR_938511.1:n.972C>G
XM_006724841.4:c.417C>G	XP_006724904.1:p.Ile139Met
XM_006724842.4:c.327C>G	XP_006724905.1:p.Ile109Met
XM_011531191.2:c.348C>G	XP_011529493.1:p.Ile116Met
XM_017029761.1:c.492C>G	XP_016885250.1:p.Ile164Met
XM_017029762.1:c.588C>G	XP_016885251.1:p.Ile196Met
XM_017029763.1:c.411C>G	XP_016885252.1:p.Ile137Met
XM_017029764.1:c.345C>G	XP_016885253.1:p.Ile115Met
XM_017029765.2:c.285C>G	XP_016885254.1:p.Ile95Met
XM_024452431.1:c.465C>G	XP_024308199.1:p.Ile155Met
NM_000116.5:c.624C>G MANE Select	NP_000107.1:p.Ile208Met
NM_001303465.2:c.636C>G	NP_001290394.1:p.Ile212Met
NM_181311.4:c.534C>G	NP_851828.1:p.Ile178Met
NM_181312.4:c.582C>G	NP_851829.1:p.Ile194Met
NM_181313.4:c.492C>G	NP_851830.1:p.Ile164Met
NR_024048.3:n.945C>G