Canonical Allele Identifier: CA971894432

Gene: FAH

Linked Data

• dbSNP Id: rs1368296963
• gnomAD v3: 15-80152844-A-C
• gnomAD v4: 15-80152844-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152844A>C , CM000677.2:g.80152844A>C	GRCh38
NC_000015.9:g.80445186A>C , CM000677.1:g.80445186A>C	GRCh37
NC_000015.8:g.78232241A>C	NCBI36
NG_012833.1:g.4846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-211A>C	ENSP00000507680.1:n.-211A>C
ENST00000261755.9:c.-30+3A>C	ENSP00000261755.5:n.-30+3A>C
ENST00000407106.5:c.-91A>C	ENSP00000385080.1:n.-91A>C
ENST00000537726.5:n.53+3A>C
ENST00000558022.5:c.-29-182A>C	ENSP00000453152.1:n.-29-182A>C
ENST00000558767.5:n.51A>C
XM_024449872.1:c.-91A>C	XP_024305640.1:n.-91A>C
NM_001374377.1:c.-91A>C	NP_001361306.1:n.-91A>C
NM_001374380.1:c.-30+3A>C	NP_001361309.1:n.-30+3A>C