Canonical Allele Identifier: CA491682422

Gene: FAH

Linked Data

• ClinVar Variation Id: 2709757
• ClinVar RCV Id: RCV003518153
• MyVariant Identifiers: chr15:g.80460439G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168097G>T , CM000677.2:g.80168097G>T	GRCh38
NC_000015.9:g.80460439G>T , CM000677.1:g.80460439G>T	GRCh37
NC_000015.8:g.78247494G>T	NCBI36
NG_012833.1:g.20099G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.576G>T
ENST00000684569.1:n.546G>T
ENST00000561421.6:c.501G>T MANE Select	ENSP00000453347.2:p.Val167=
ENST00000646551.1:n.2128G>T
ENST00000261755.9:c.501G>T	ENSP00000261755.5:p.Val167=
ENST00000407106.5:c.501G>T	ENSP00000385080.1:p.Val167=
ENST00000539156.5:c.291G>T	ENSP00000454271.1:p.Val97=
ENST00000558514.1:n.47G>T
ENST00000558627.1:n.429G>T
ENST00000561421.5:c.501G>T	ENSP00000453347.1:p.Val167=
NM_000137.2:c.501G>T	NP_000128.1:p.Val167=
XM_024449872.1:c.501G>T	XP_024305640.1:p.Val167=
NM_000137.4:c.501G>T MANE Select	NP_000128.1:p.Val167=
NM_001374377.1:c.501G>T	NP_001361306.1:p.Val167=
NM_001374380.1:c.501G>T	NP_001361309.1:p.Val167=