Canonical Allele Identifier: CA2629872809

Gene: FAH

Linked Data

• gnomAD v4: 15-80152803-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152803G>C , CM000677.2:g.80152803G>C	GRCh38
NC_000015.9:g.80445145G>C , CM000677.1:g.80445145G>C	GRCh37
NC_000015.8:g.78232200G>C	NCBI36
NG_012833.1:g.4805G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-252G>C	ENSP00000507680.1:n.-252G>C
ENST00000261755.9:c.-68G>C	ENSP00000261755.5:n.-68G>C
ENST00000407106.5:c.-132G>C	ENSP00000385080.1:n.-132G>C
ENST00000537726.5:n.15G>C
ENST00000558022.5:c.-29-223G>C	ENSP00000453152.1:n.-29-223G>C
ENST00000558767.5:n.10G>C
NM_001374377.1:c.-132G>C	NP_001361306.1:n.-132G>C
NM_001374380.1:c.-68G>C	NP_001361309.1:n.-68G>C