Canonical Allele Identifier: CA7691196

Gene: FAH

Linked Data

• dbSNP Id: rs753784953
• ExAC: 15:80460427 C / G
• gnomAD v2: 15-80460427-C-G
• gnomAD v4: 15-80168085-C-G
• MyVariant Identifiers: chr15:g.80460427C>G (hg19) ; chr15:g.80168085C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168085C>G , CM000677.2:g.80168085C>G	GRCh38
NC_000015.9:g.80460427C>G , CM000677.1:g.80460427C>G	GRCh37
NC_000015.8:g.78247482C>G	NCBI36
NG_012833.1:g.20087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.564C>G
ENST00000684569.1:n.534C>G
ENST00000561421.6:c.489C>G MANE Select	ENSP00000453347.2:p.Ala163=
ENST00000646551.1:n.2116C>G
ENST00000261755.9:c.489C>G	ENSP00000261755.5:p.Ala163=
ENST00000407106.5:c.489C>G	ENSP00000385080.1:p.Ala163=
ENST00000539156.5:c.279C>G	ENSP00000454271.1:p.Ala93=
ENST00000558514.1:n.35C>G
ENST00000558627.1:n.417C>G
ENST00000561421.5:c.489C>G	ENSP00000453347.1:p.Ala163=
NM_000137.2:c.489C>G	NP_000128.1:p.Ala163=
XM_024449872.1:c.489C>G	XP_024305640.1:p.Ala163=
NM_000137.4:c.489C>G MANE Select	NP_000128.1:p.Ala163=
NM_001374377.1:c.489C>G	NP_001361306.1:p.Ala163=
NM_001374380.1:c.489C>G	NP_001361309.1:p.Ala163=