Canonical Allele Identifier: CA2190327835

Gene: FAH

Linked Data

• dbSNP Id: rs532122242
• gnomAD v4: 15-80152992-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152992C>T , CM000677.2:g.80152992C>T	GRCh38
NC_000015.9:g.80445334C>T , CM000677.1:g.80445334C>T	GRCh37
NC_000015.8:g.78232389C>T	NCBI36
NG_012833.1:g.4994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-63C>T	ENSP00000507680.1:n.-63C>T
ENST00000682012.1:n.13C>T
ENST00000261755.9:c.-29-34C>T	ENSP00000261755.5:n.-29-34C>T
ENST00000407106.5:c.-29-34C>T	ENSP00000385080.1:n.-29-34C>T
ENST00000537726.5:n.54-34C>T
ENST00000558022.5:c.-29-34C>T	ENSP00000453152.1:n.-29-34C>T
ENST00000558767.5:n.199C>T
ENST00000561369.1:n.52-34C>T
ENST00000561421.5:c.-63C>T	ENSP00000453347.1:n.-63C>T
NM_000137.2:c.-63C>T	NP_000128.1:n.-63C>T
XM_024449872.1:c.-29-34C>T	XP_024305640.1:n.-29-34C>T
NM_001374377.1:c.-29-34C>T	NP_001361306.1:n.-29-34C>T
NM_001374380.1:c.-29-34C>T	NP_001361309.1:n.-29-34C>T