Canonical Allele Identifier: CA415184292

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648407C>G (hg19) ; chrX:g.154420068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420068C>G , CM000685.2:g.154420068C>G	GRCh38
NC_000023.10:g.153648407C>G , CM000685.1:g.153648407C>G	GRCh37
NC_000023.9:g.153301601C>G	NCBI36
NG_009634.1:g.13531C>G
NG_009634.2:g.13534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1430C>G
ENST00000698317.1:n.2046C>G
ENST00000698318.1:n.1829C>G
ENST00000698319.1:n.1192C>G
ENST00000698320.1:n.1080C>G
ENST00000470127.2:n.1093C>G
ENST00000475699.6:c.584C>G	ENSP00000419854.3:p.Pro195Arg
ENST00000483674.3:n.502C>G
ENST00000601016.6:c.620C>G MANE Select	ENSP00000469981.1:p.Pro207Arg
ENST00000612012.5:c.578C>G	ENSP00000482070.2:p.Pro193Arg
ENST00000612460.5:c.530C>G	ENSP00000481037.1:p.Pro177Arg
ENST00000614595.2:n.1967C>G
ENST00000615658.5:n.1209C>G
ENST00000616020.5:c.632C>G	ENSP00000483636.2:p.Pro211Arg
ENST00000617701.5:c.*633C>G	ENSP00000481645.1:n.*633C>G
ENST00000652354.1:c.302C>G	ENSP00000498734.1:p.Pro101Arg
ENST00000652358.1:c.413C>G	ENSP00000498464.1:p.Pro138Arg
ENST00000652390.1:c.539C>G	ENSP00000498858.1:p.Pro180Arg
ENST00000652476.1:n.1286C>G
ENST00000652644.1:c.233C>G	ENSP00000498496.1:p.Pro78Arg
ENST00000652682.1:c.677C>G	ENSP00000498288.1:p.Pro226Arg
ENST00000652685.1:n.973C>G
ENST00000369776.8:c.413C>G	ENSP00000358791.4:p.Pro138Arg
ENST00000426231.5:c.617C>G
ENST00000439735.2:c.527C>G	ENSP00000398193.1:p.Pro176Arg
ENST00000470127.1:n.199C>G
ENST00000475699.5:c.578C>G	ENSP00000419854.2:p.Pro193Arg
ENST00000494912.5:n.1309C>G
ENST00000498029.1:n.78C>G
ENST00000601016.5:c.620C>G	ENSP00000469981.1:p.Pro207Arg
ENST00000612012.4:c.584C>G	ENSP00000482070.1:p.Pro195Arg
ENST00000612460.4:c.530C>G	ENSP00000481037.1:p.Pro177Arg
ENST00000613002.4:c.488C>G	ENSP00000478154.1:p.Pro163Arg
ENST00000615658.4:n.1309C>G
ENST00000615986.4:c.*348C>G	ENSP00000480133.1:n.*348C>G
ENST00000620808.4:c.*206C>G	ENSP00000479311.1:n.*206C>G
NM_000116.4:c.620C>G	NP_000107.1:p.Pro207Arg
NM_001303465.1:c.632C>G	NP_001290394.1:p.Pro211Arg
NM_181311.3:c.530C>G	NP_851828.1:p.Pro177Arg
NM_181312.3:c.578C>G	NP_851829.1:p.Pro193Arg
NM_181313.3:c.488C>G	NP_851830.1:p.Pro163Arg
NR_024048.2:n.962C>G
XM_006724836.1:c.674C>G	XP_006724899.1:p.Pro225Arg
XM_006724837.1:c.542C>G	XP_006724900.1:p.Pro181Arg
XM_006724839.1:c.542C>G	XP_006724902.1:p.Pro181Arg
XM_006724841.2:c.413C>G	XP_006724904.1:p.Pro138Arg
XM_006724842.2:c.323C>G	XP_006724905.1:p.Pro108Arg
XM_011531189.1:c.461C>G	XP_011529491.1:p.Pro154Arg
XM_011531190.1:c.413C>G	XP_011529492.1:p.Pro138Arg
XM_011531191.1:c.344C>G	XP_011529493.1:p.Pro115Arg
XM_011531192.1:c.341C>G	XP_011529494.1:p.Pro114Arg
XR_938511.1:n.968C>G
XM_006724841.4:c.413C>G	XP_006724904.1:p.Pro138Arg
XM_006724842.4:c.323C>G	XP_006724905.1:p.Pro108Arg
XM_011531191.2:c.344C>G	XP_011529493.1:p.Pro115Arg
XM_017029761.1:c.488C>G	XP_016885250.1:p.Pro163Arg
XM_017029762.1:c.584C>G	XP_016885251.1:p.Pro195Arg
XM_017029763.1:c.407C>G	XP_016885252.1:p.Pro136Arg
XM_017029764.1:c.341C>G	XP_016885253.1:p.Pro114Arg
XM_017029765.2:c.281C>G	XP_016885254.1:p.Pro94Arg
XM_024452431.1:c.461C>G	XP_024308199.1:p.Pro154Arg
NM_000116.5:c.620C>G MANE Select	NP_000107.1:p.Pro207Arg
NM_001303465.2:c.632C>G	NP_001290394.1:p.Pro211Arg
NM_181311.4:c.530C>G	NP_851828.1:p.Pro177Arg
NM_181312.4:c.578C>G	NP_851829.1:p.Pro193Arg
NM_181313.4:c.488C>G	NP_851830.1:p.Pro163Arg
NR_024048.3:n.941C>G