Canonical Allele Identifier: CA2629872886

Gene: FAH

Linked Data

• dbSNP Id: rs2142086575
• gnomAD v4: 15-80152845-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152845G>T , CM000677.2:g.80152845G>T	GRCh38
NC_000015.9:g.80445187G>T , CM000677.1:g.80445187G>T	GRCh37
NC_000015.8:g.78232242G>T	NCBI36
NG_012833.1:g.4847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-210G>T	ENSP00000507680.1:n.-210G>T
ENST00000261755.9:c.-30+4G>T	ENSP00000261755.5:n.-30+4G>T
ENST00000407106.5:c.-90G>T	ENSP00000385080.1:n.-90G>T
ENST00000537726.5:n.53+4G>T
ENST00000558022.5:c.-29-181G>T	ENSP00000453152.1:n.-29-181G>T
ENST00000558767.5:n.52G>T
XM_024449872.1:c.-90G>T	XP_024305640.1:n.-90G>T
NM_001374377.1:c.-90G>T	NP_001361306.1:n.-90G>T
NM_001374380.1:c.-30+4G>T	NP_001361309.1:n.-30+4G>T