Canonical Allele Identifier: CA2190327672

Gene: FAH

Linked Data

• dbSNP Id: rs2041063081
• gnomAD v4: 15-80152939-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152939G>A , CM000677.2:g.80152939G>A	GRCh38
NC_000015.9:g.80445281G>A , CM000677.1:g.80445281G>A	GRCh37
NC_000015.8:g.78232336G>A	NCBI36
NG_012833.1:g.4941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-116G>A	ENSP00000507680.1:n.-116G>A
ENST00000261755.9:c.-29-87G>A	ENSP00000261755.5:n.-29-87G>A
ENST00000407106.5:c.-30+34G>A	ENSP00000385080.1:n.-30+34G>A
ENST00000537726.5:n.54-87G>A
ENST00000558022.5:c.-29-87G>A	ENSP00000453152.1:n.-29-87G>A
ENST00000558767.5:n.146G>A
ENST00000561369.1:n.51+34G>A
ENST00000561421.5:c.-116G>A	ENSP00000453347.1:n.-116G>A
NM_000137.2:c.-116G>A	NP_000128.1:n.-116G>A
XM_024449872.1:c.-30+34G>A	XP_024305640.1:n.-30+34G>A
NM_001374377.1:c.-30+34G>A	NP_001361306.1:n.-30+34G>A
NM_001374380.1:c.-29-87G>A	NP_001361309.1:n.-29-87G>A