Canonical Allele Identifier: CA2629872917

Gene: FAH

Linked Data

• gnomAD v4: 15-80152860-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152860G>C , CM000677.2:g.80152860G>C	GRCh38
NC_000015.9:g.80445202G>C , CM000677.1:g.80445202G>C	GRCh37
NC_000015.8:g.78232257G>C	NCBI36
NG_012833.1:g.4862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-195G>C	ENSP00000507680.1:n.-195G>C
ENST00000261755.9:c.-30+19G>C	ENSP00000261755.5:n.-30+19G>C
ENST00000407106.5:c.-75G>C	ENSP00000385080.1:n.-75G>C
ENST00000537726.5:n.53+19G>C
ENST00000558022.5:c.-29-166G>C	ENSP00000453152.1:n.-29-166G>C
ENST00000558767.5:n.67G>C
ENST00000561369.1:n.6G>C
XM_024449872.1:c.-75G>C	XP_024305640.1:n.-75G>C
NM_001374377.1:c.-75G>C	NP_001361306.1:n.-75G>C
NM_001374380.1:c.-30+19G>C	NP_001361309.1:n.-30+19G>C