Canonical Allele Identifier: CA971894507

Gene: FAH

Linked Data

• dbSNP Id: rs2041062611
• gnomAD v3: 15-80152880-G-T
• gnomAD v4: 15-80152880-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152880G>T , CM000677.2:g.80152880G>T	GRCh38
NC_000015.9:g.80445222G>T , CM000677.1:g.80445222G>T	GRCh37
NC_000015.8:g.78232277G>T	NCBI36
NG_012833.1:g.4882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-175G>T	ENSP00000507680.1:n.-175G>T
ENST00000261755.9:c.-30+39G>T	ENSP00000261755.5:n.-30+39G>T
ENST00000407106.5:c.-55G>T	ENSP00000385080.1:n.-55G>T
ENST00000537726.5:n.53+39G>T
ENST00000558022.5:c.-29-146G>T	ENSP00000453152.1:n.-29-146G>T
ENST00000558767.5:n.87G>T
ENST00000561369.1:n.26G>T
XM_024449872.1:c.-55G>T	XP_024305640.1:n.-55G>T
NM_001374377.1:c.-55G>T	NP_001361306.1:n.-55G>T
NM_001374380.1:c.-30+39G>T	NP_001361309.1:n.-30+39G>T