Canonical Allele Identifier: CA274010886

Gene: FAH

Linked Data

• dbSNP Id: rs1000181141
• gnomAD v3: 15-80152963-G-C
• gnomAD v4: 15-80152963-G-C
• MyVariant Identifiers: chr15:g.80445305G>C (hg19) ; chr15:g.80152963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152963G>C , CM000677.2:g.80152963G>C	GRCh38
NC_000015.9:g.80445305G>C , CM000677.1:g.80445305G>C	GRCh37
NC_000015.8:g.78232360G>C	NCBI36
NG_012833.1:g.4965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-92G>C	ENSP00000507680.1:n.-92G>C
ENST00000261755.9:c.-29-63G>C	ENSP00000261755.5:n.-29-63G>C
ENST00000407106.5:c.-30+58G>C	ENSP00000385080.1:n.-30+58G>C
ENST00000537726.5:n.54-63G>C
ENST00000558022.5:c.-29-63G>C	ENSP00000453152.1:n.-29-63G>C
ENST00000558767.5:n.170G>C
ENST00000561369.1:n.51+58G>C
ENST00000561421.5:c.-92G>C	ENSP00000453347.1:n.-92G>C
NM_000137.2:c.-92G>C	NP_000128.1:n.-92G>C
XM_024449872.1:c.-30+58G>C	XP_024305640.1:n.-30+58G>C
NM_001374377.1:c.-30+58G>C	NP_001361306.1:n.-30+58G>C
NM_001374380.1:c.-29-63G>C	NP_001361309.1:n.-29-63G>C