Canonical Allele Identifier: CA2629872861

Gene: FAH

Linked Data

• gnomAD v4: 15-80152833-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152833G>C , CM000677.2:g.80152833G>C	GRCh38
NC_000015.9:g.80445175G>C , CM000677.1:g.80445175G>C	GRCh37
NC_000015.8:g.78232230G>C	NCBI36
NG_012833.1:g.4835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-222G>C	ENSP00000507680.1:n.-222G>C
ENST00000261755.9:c.-38G>C	ENSP00000261755.5:n.-38G>C
ENST00000407106.5:c.-102G>C	ENSP00000385080.1:n.-102G>C
ENST00000537726.5:n.45G>C
ENST00000558022.5:c.-29-193G>C	ENSP00000453152.1:n.-29-193G>C
ENST00000558767.5:n.40G>C
XM_024449872.1:c.-102G>C	XP_024305640.1:n.-102G>C
NM_001374377.1:c.-102G>C	NP_001361306.1:n.-102G>C
NM_001374380.1:c.-38G>C	NP_001361309.1:n.-38G>C