Canonical Allele Identifier: CA716102629

Gene: FAH

Linked Data

• dbSNP Id: rs1419249382
• gnomAD v3: 15-80152878-G-C
• gnomAD v4: 15-80152878-G-C
• MyVariant Identifiers: chr15:g.80445220G>C (hg19) ; chr15:g.80152878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152878G>C , CM000677.2:g.80152878G>C	GRCh38
NC_000015.9:g.80445220G>C , CM000677.1:g.80445220G>C	GRCh37
NC_000015.8:g.78232275G>C	NCBI36
NG_012833.1:g.4880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-177G>C	ENSP00000507680.1:n.-177G>C
ENST00000261755.9:c.-30+37G>C	ENSP00000261755.5:n.-30+37G>C
ENST00000407106.5:c.-57G>C	ENSP00000385080.1:n.-57G>C
ENST00000537726.5:n.53+37G>C
ENST00000558022.5:c.-29-148G>C	ENSP00000453152.1:n.-29-148G>C
ENST00000558767.5:n.85G>C
ENST00000561369.1:n.24G>C
XM_024449872.1:c.-57G>C	XP_024305640.1:n.-57G>C
NM_001374377.1:c.-57G>C	NP_001361306.1:n.-57G>C
NM_001374380.1:c.-30+37G>C	NP_001361309.1:n.-30+37G>C