Canonical Allele Identifier: CA415184230

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1998502
• ClinVar RCV Id: RCV002796905
• MyVariant Identifiers: chrX:g.153648400C>A (hg19) ; chrX:g.154420061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420061C>A , CM000685.2:g.154420061C>A	GRCh38
NC_000023.10:g.153648400C>A , CM000685.1:g.153648400C>A	GRCh37
NC_000023.9:g.153301594C>A	NCBI36
NG_009634.1:g.13524C>A
NG_009634.2:g.13527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1423C>A
ENST00000698317.1:n.2039C>A
ENST00000698318.1:n.1822C>A
ENST00000698319.1:n.1185C>A
ENST00000698320.1:n.1073C>A
ENST00000470127.2:n.1086C>A
ENST00000475699.6:c.577C>A	ENSP00000419854.3:p.Leu193Ile
ENST00000483674.3:n.495C>A
ENST00000601016.6:c.613C>A MANE Select	ENSP00000469981.1:p.Leu205Ile
ENST00000612012.5:c.571C>A	ENSP00000482070.2:p.Leu191Ile
ENST00000612460.5:c.523C>A	ENSP00000481037.1:p.Leu175Ile
ENST00000614595.2:n.1960C>A
ENST00000615658.5:n.1202C>A
ENST00000616020.5:c.625C>A	ENSP00000483636.2:p.Leu209Ile
ENST00000617701.5:c.*626C>A	ENSP00000481645.1:n.*626C>A
ENST00000652354.1:c.295C>A	ENSP00000498734.1:p.Leu99Ile
ENST00000652358.1:c.406C>A	ENSP00000498464.1:p.Leu136Ile
ENST00000652390.1:c.532C>A	ENSP00000498858.1:p.Leu178Ile
ENST00000652476.1:n.1279C>A
ENST00000652644.1:c.226C>A	ENSP00000498496.1:p.Leu76Ile
ENST00000652682.1:c.670C>A	ENSP00000498288.1:p.Leu224Ile
ENST00000652685.1:n.966C>A
ENST00000369776.8:c.406C>A	ENSP00000358791.4:p.Leu136Ile
ENST00000426231.5:c.610C>A
ENST00000439735.2:c.520C>A	ENSP00000398193.1:p.Leu174Ile
ENST00000470127.1:n.192C>A
ENST00000475699.5:c.571C>A	ENSP00000419854.2:p.Leu191Ile
ENST00000494912.5:n.1302C>A
ENST00000498029.1:n.71C>A
ENST00000601016.5:c.613C>A	ENSP00000469981.1:p.Leu205Ile
ENST00000612012.4:c.577C>A	ENSP00000482070.1:p.Leu193Ile
ENST00000612460.4:c.523C>A	ENSP00000481037.1:p.Leu175Ile
ENST00000613002.4:c.481C>A	ENSP00000478154.1:p.Leu161Ile
ENST00000615658.4:n.1302C>A
ENST00000615986.4:c.*341C>A	ENSP00000480133.1:n.*341C>A
ENST00000620808.4:c.*199C>A	ENSP00000479311.1:n.*199C>A
NM_000116.4:c.613C>A	NP_000107.1:p.Leu205Ile
NM_001303465.1:c.625C>A	NP_001290394.1:p.Leu209Ile
NM_181311.3:c.523C>A	NP_851828.1:p.Leu175Ile
NM_181312.3:c.571C>A	NP_851829.1:p.Leu191Ile
NM_181313.3:c.481C>A	NP_851830.1:p.Leu161Ile
NR_024048.2:n.955C>A
XM_006724836.1:c.667C>A	XP_006724899.1:p.Leu223Ile
XM_006724837.1:c.535C>A	XP_006724900.1:p.Leu179Ile
XM_006724839.1:c.535C>A	XP_006724902.1:p.Leu179Ile
XM_006724841.2:c.406C>A	XP_006724904.1:p.Leu136Ile
XM_006724842.2:c.316C>A	XP_006724905.1:p.Leu106Ile
XM_011531189.1:c.454C>A	XP_011529491.1:p.Leu152Ile
XM_011531190.1:c.406C>A	XP_011529492.1:p.Leu136Ile
XM_011531191.1:c.337C>A	XP_011529493.1:p.Leu113Ile
XM_011531192.1:c.334C>A	XP_011529494.1:p.Leu112Ile
XR_938511.1:n.961C>A
XM_006724841.4:c.406C>A	XP_006724904.1:p.Leu136Ile
XM_006724842.4:c.316C>A	XP_006724905.1:p.Leu106Ile
XM_011531191.2:c.337C>A	XP_011529493.1:p.Leu113Ile
XM_017029761.1:c.481C>A	XP_016885250.1:p.Leu161Ile
XM_017029762.1:c.577C>A	XP_016885251.1:p.Leu193Ile
XM_017029763.1:c.400C>A	XP_016885252.1:p.Leu134Ile
XM_017029764.1:c.334C>A	XP_016885253.1:p.Leu112Ile
XM_017029765.2:c.274C>A	XP_016885254.1:p.Leu92Ile
XM_024452431.1:c.454C>A	XP_024308199.1:p.Leu152Ile
NM_000116.5:c.613C>A MANE Select	NP_000107.1:p.Leu205Ile
NM_001303465.2:c.625C>A	NP_001290394.1:p.Leu209Ile
NM_181311.4:c.523C>A	NP_851828.1:p.Leu175Ile
NM_181312.4:c.571C>A	NP_851829.1:p.Leu191Ile
NM_181313.4:c.481C>A	NP_851830.1:p.Leu161Ile
NR_024048.3:n.934C>A