Canonical Allele Identifier: CA2190327406

Gene: FAH

Linked Data

• dbSNP Id: rs1171453760
• gnomAD v4: 15-80152802-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152802G>T , CM000677.2:g.80152802G>T	GRCh38
NC_000015.9:g.80445144G>T , CM000677.1:g.80445144G>T	GRCh37
NC_000015.8:g.78232199G>T	NCBI36
NG_012833.1:g.4804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-253G>T	ENSP00000507680.1:n.-253G>T
ENST00000261755.9:c.-69G>T	ENSP00000261755.5:n.-69G>T
ENST00000407106.5:c.-133G>T	ENSP00000385080.1:n.-133G>T
ENST00000537726.5:n.14G>T
ENST00000558022.5:c.-29-224G>T	ENSP00000453152.1:n.-29-224G>T
ENST00000558767.5:n.9G>T
NM_001374377.1:c.-133G>T	NP_001361306.1:n.-133G>T
NM_001374380.1:c.-69G>T	NP_001361309.1:n.-69G>T