Canonical Allele Identifier: CA971894572

Gene: FAH

Linked Data

• gnomAD v3: 15-80152960-A-C
• gnomAD v4: 15-80152960-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152960A>C , CM000677.2:g.80152960A>C	GRCh38
NC_000015.9:g.80445302A>C , CM000677.1:g.80445302A>C	GRCh37
NC_000015.8:g.78232357A>C	NCBI36
NG_012833.1:g.4962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-95A>C	ENSP00000507680.1:n.-95A>C
ENST00000261755.9:c.-29-66A>C	ENSP00000261755.5:n.-29-66A>C
ENST00000407106.5:c.-30+55A>C	ENSP00000385080.1:n.-30+55A>C
ENST00000537726.5:n.54-66A>C
ENST00000558022.5:c.-29-66A>C	ENSP00000453152.1:n.-29-66A>C
ENST00000558767.5:n.167A>C
ENST00000561369.1:n.51+55A>C
ENST00000561421.5:c.-95A>C	ENSP00000453347.1:n.-95A>C
NM_000137.2:c.-95A>C	NP_000128.1:n.-95A>C
XM_024449872.1:c.-30+55A>C	XP_024305640.1:n.-30+55A>C
NM_001374377.1:c.-30+55A>C	NP_001361306.1:n.-30+55A>C
NM_001374380.1:c.-29-66A>C	NP_001361309.1:n.-29-66A>C