Canonical Allele Identifier: CA2629873019

Gene: FAH

Linked Data

• gnomAD v4: 15-80152930-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152930G>T , CM000677.2:g.80152930G>T	GRCh38
NC_000015.9:g.80445272G>T , CM000677.1:g.80445272G>T	GRCh37
NC_000015.8:g.78232327G>T	NCBI36
NG_012833.1:g.4932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-125G>T	ENSP00000507680.1:n.-125G>T
ENST00000261755.9:c.-30+89G>T	ENSP00000261755.5:n.-30+89G>T
ENST00000407106.5:c.-30+25G>T	ENSP00000385080.1:n.-30+25G>T
ENST00000537726.5:n.53+89G>T
ENST00000558022.5:c.-29-96G>T	ENSP00000453152.1:n.-29-96G>T
ENST00000558767.5:n.137G>T
ENST00000561369.1:n.51+25G>T
ENST00000561421.5:c.-125G>T	ENSP00000453347.1:n.-125G>T
NM_000137.2:c.-125G>T	NP_000128.1:n.-125G>T
XM_024449872.1:c.-30+25G>T	XP_024305640.1:n.-30+25G>T
NM_001374377.1:c.-30+25G>T	NP_001361306.1:n.-30+25G>T
NM_001374380.1:c.-30+89G>T	NP_001361309.1:n.-30+89G>T