Canonical Allele Identifier: CA7691174

Gene: FAH

Linked Data

• dbSNP Id: rs752993613
• ExAC: 15:80454736 G / C
• gnomAD v2: 15-80454736-G-C
• gnomAD v4: 15-80162394-G-C
• MyVariant Identifiers: chr15:g.80454736G>C (hg19) ; chr15:g.80162394G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162394G>C , CM000677.2:g.80162394G>C	GRCh38
NC_000015.9:g.80454736G>C , CM000677.1:g.80454736G>C	GRCh37
NC_000015.8:g.78241791G>C	NCBI36
NG_012833.1:g.14396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*30G>C	ENSP00000507680.1:n.*30G>C
ENST00000682012.1:n.530+58G>C
ENST00000683593.1:n.2176G>C
ENST00000684363.1:c.367G>C	ENSP00000507314.1:p.Ala123Pro
ENST00000684569.1:n.500+58G>C
ENST00000561421.6:c.455+58G>C MANE Select	ENSP00000453347.2:n.455+58G>C
ENST00000646551.1:n.1942+58G>C
ENST00000261755.9:c.455+58G>C	ENSP00000261755.5:n.455+58G>C
ENST00000407106.5:c.455+58G>C	ENSP00000385080.1:n.455+58G>C
ENST00000537726.5:n.659G>C
ENST00000539156.5:c.245+58G>C	ENSP00000454271.1:n.245+58G>C
ENST00000558022.5:c.455+58G>C	ENSP00000453152.1:n.455+58G>C
ENST00000558627.1:n.383+58G>C
ENST00000558767.5:n.774G>C
ENST00000561369.1:n.657G>C
ENST00000561421.5:c.455+58G>C	ENSP00000453347.1:n.455+58G>C
NM_000137.2:c.455+58G>C	NP_000128.1:n.455+58G>C
XM_024449872.1:c.455+58G>C	XP_024305640.1:n.455+58G>C
NM_000137.4:c.455+58G>C MANE Select	NP_000128.1:n.455+58G>C
NM_001374377.1:c.455+58G>C	NP_001361306.1:n.455+58G>C
NM_001374380.1:c.455+58G>C	NP_001361309.1:n.455+58G>C