Canonical Allele Identifier: CA2629872905

Gene: FAH

Linked Data

• gnomAD v4: 15-80152855-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152855G>A , CM000677.2:g.80152855G>A	GRCh38
NC_000015.9:g.80445197G>A , CM000677.1:g.80445197G>A	GRCh37
NC_000015.8:g.78232252G>A	NCBI36
NG_012833.1:g.4857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-200G>A	ENSP00000507680.1:n.-200G>A
ENST00000261755.9:c.-30+14G>A	ENSP00000261755.5:n.-30+14G>A
ENST00000407106.5:c.-80G>A	ENSP00000385080.1:n.-80G>A
ENST00000537726.5:n.53+14G>A
ENST00000558022.5:c.-29-171G>A	ENSP00000453152.1:n.-29-171G>A
ENST00000558767.5:n.62G>A
ENST00000561369.1:n.1G>A
XM_024449872.1:c.-80G>A	XP_024305640.1:n.-80G>A
NM_001374377.1:c.-80G>A	NP_001361306.1:n.-80G>A
NM_001374380.1:c.-30+14G>A	NP_001361309.1:n.-30+14G>A