Canonical Allele Identifier: CA2629872837

Gene: FAH

Linked Data

• gnomAD v4: 15-80152823-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152823G>C , CM000677.2:g.80152823G>C	GRCh38
NC_000015.9:g.80445165G>C , CM000677.1:g.80445165G>C	GRCh37
NC_000015.8:g.78232220G>C	NCBI36
NG_012833.1:g.4825G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-232G>C	ENSP00000507680.1:n.-232G>C
ENST00000261755.9:c.-48G>C	ENSP00000261755.5:n.-48G>C
ENST00000407106.5:c.-112G>C	ENSP00000385080.1:n.-112G>C
ENST00000537726.5:n.35G>C
ENST00000558022.5:c.-29-203G>C	ENSP00000453152.1:n.-29-203G>C
ENST00000558767.5:n.30G>C
XM_024449872.1:c.-112G>C	XP_024305640.1:n.-112G>C
NM_001374377.1:c.-112G>C	NP_001361306.1:n.-112G>C
NM_001374380.1:c.-48G>C	NP_001361309.1:n.-48G>C