Canonical Allele Identifier: CA971894390

Gene: FAH

Linked Data

• gnomAD v3: 15-80152816-A-C
• gnomAD v4: 15-80152816-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152816A>C , CM000677.2:g.80152816A>C	GRCh38
NC_000015.9:g.80445158A>C , CM000677.1:g.80445158A>C	GRCh37
NC_000015.8:g.78232213A>C	NCBI36
NG_012833.1:g.4818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-239A>C	ENSP00000507680.1:n.-239A>C
ENST00000261755.9:c.-55A>C	ENSP00000261755.5:n.-55A>C
ENST00000407106.5:c.-119A>C	ENSP00000385080.1:n.-119A>C
ENST00000537726.5:n.28A>C
ENST00000558022.5:c.-29-210A>C	ENSP00000453152.1:n.-29-210A>C
ENST00000558767.5:n.23A>C
NM_001374377.1:c.-119A>C	NP_001361306.1:n.-119A>C
NM_001374380.1:c.-55A>C	NP_001361309.1:n.-55A>C