Canonical Allele Identifier: CA415183972

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 648168
• ClinVar RCV Id: RCV000802834
• dbSNP Id: rs1557193924
• gnomAD v2: X-153648078-C-G
• gnomAD v4: X-154419739-C-G
• MyVariant Identifiers: chrX:g.153648078C>G (hg19) ; chrX:g.154419739C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419739C>G , CM000685.2:g.154419739C>G	GRCh38
NC_000023.10:g.153648078C>G , CM000685.1:g.153648078C>G	GRCh37
NC_000023.9:g.153301272C>G	NCBI36
NG_009634.1:g.13202C>G
NG_009634.2:g.13205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1101C>G
ENST00000698317.1:n.1717C>G
ENST00000698318.1:n.1500C>G
ENST00000698319.1:n.863C>G
ENST00000698320.1:n.751C>G
ENST00000470127.2:n.764C>G
ENST00000475699.6:c.540C>G	ENSP00000419854.3:p.Phe180Leu
ENST00000483674.3:n.458C>G
ENST00000601016.6:c.576C>G MANE Select	ENSP00000469981.1:p.Phe192Leu
ENST00000612012.5:c.541+116C>G	ENSP00000482070.2:n.541+116C>G
ENST00000612460.5:c.486C>G	ENSP00000481037.1:p.Phe162Leu
ENST00000614595.2:n.1923C>G
ENST00000615658.5:n.880C>G
ENST00000616020.5:c.595+116C>G	ENSP00000483636.2:n.595+116C>G
ENST00000617701.5:c.*304C>G	ENSP00000481645.1:n.*304C>G
ENST00000652354.1:c.265+116C>G	ENSP00000498734.1:n.265+116C>G
ENST00000652358.1:c.369C>G	ENSP00000498464.1:p.Phe123Leu
ENST00000652390.1:c.495C>G	ENSP00000498858.1:p.Phe165Leu
ENST00000652476.1:n.957C>G
ENST00000652644.1:c.189C>G	ENSP00000498496.1:p.Phe63Leu
ENST00000652682.1:c.633C>G	ENSP00000498288.1:p.Phe211Leu
ENST00000652685.1:n.644C>G
ENST00000369776.8:c.376+116C>G	ENSP00000358791.4:n.376+116C>G
ENST00000426231.5:c.573C>G
ENST00000439735.2:c.483C>G	ENSP00000398193.1:p.Phe161Leu
ENST00000470127.1:n.155C>G
ENST00000475699.5:c.541+116C>G	ENSP00000419854.2:n.541+116C>G
ENST00000476679.5:n.570C>G
ENST00000483780.5:n.341C>G
ENST00000494912.5:n.1265C>G
ENST00000601016.5:c.576C>G	ENSP00000469981.1:p.Phe192Leu
ENST00000612012.4:c.540C>G	ENSP00000482070.1:p.Phe180Leu
ENST00000612460.4:c.486C>G	ENSP00000481037.1:p.Phe162Leu
ENST00000613002.4:c.451+116C>G	ENSP00000478154.1:n.451+116C>G
ENST00000613634.4:n.806C>G
ENST00000615658.4:n.980C>G
ENST00000615986.4:c.*304C>G	ENSP00000480133.1:n.*304C>G
ENST00000620808.4:c.*170-293C>G	ENSP00000479311.1:n.*170-293C>G
NM_000116.4:c.576C>G	NP_000107.1:p.Phe192Leu
NM_001303465.1:c.595+116C>G	NP_001290394.1:n.595+116C>G
NM_181311.3:c.486C>G	NP_851828.1:p.Phe162Leu
NM_181312.3:c.541+116C>G	NP_851829.1:n.541+116C>G
NM_181313.3:c.451+116C>G	NP_851830.1:n.451+116C>G
NR_024048.2:n.918C>G
XM_006724836.1:c.630C>G	XP_006724899.1:p.Phe210Leu
XM_006724837.1:c.505+116C>G	XP_006724900.1:n.505+116C>G
XM_006724839.1:c.505+116C>G	XP_006724902.1:n.505+116C>G
XM_006724841.2:c.369C>G	XP_006724904.1:p.Phe123Leu
XM_006724842.2:c.279C>G	XP_006724905.1:p.Phe93Leu
XM_011531189.1:c.425-293C>G	XP_011529491.1:n.425-293C>G
XM_011531190.1:c.369C>G	XP_011529492.1:p.Phe123Leu
XM_011531191.1:c.300C>G	XP_011529493.1:p.Phe100Leu
XM_011531192.1:c.297C>G	XP_011529494.1:p.Phe99Leu
XR_938511.1:n.924C>G
XM_006724841.4:c.369C>G	XP_006724904.1:p.Phe123Leu
XM_006724842.4:c.279C>G	XP_006724905.1:p.Phe93Leu
XM_011531191.2:c.300C>G	XP_011529493.1:p.Phe100Leu
XM_017029761.1:c.451+116C>G	XP_016885250.1:n.451+116C>G
XM_017029762.1:c.540C>G	XP_016885251.1:p.Phe180Leu
XM_017029763.1:c.371-293C>G	XP_016885252.1:n.371-293C>G
XM_017029764.1:c.297C>G	XP_016885253.1:p.Phe99Leu
XM_017029765.2:c.244+116C>G	XP_016885254.1:n.244+116C>G
XM_024452431.1:c.425-293C>G	XP_024308199.1:n.425-293C>G
NM_000116.5:c.576C>G MANE Select	NP_000107.1:p.Phe192Leu
NM_001303465.2:c.595+116C>G	NP_001290394.1:n.595+116C>G
NM_181311.4:c.486C>G	NP_851828.1:p.Phe162Leu
NM_181312.4:c.541+116C>G	NP_851829.1:n.541+116C>G
NM_181313.4:c.451+116C>G	NP_851830.1:n.451+116C>G
NR_024048.3:n.897C>G