Canonical Allele Identifier: CA2629873021

Gene: FAH

Linked Data

• gnomAD v4: 15-80152931-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152931T>C , CM000677.2:g.80152931T>C	GRCh38
NC_000015.9:g.80445273T>C , CM000677.1:g.80445273T>C	GRCh37
NC_000015.8:g.78232328T>C	NCBI36
NG_012833.1:g.4933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-124T>C	ENSP00000507680.1:n.-124T>C
ENST00000261755.9:c.-30+90T>C	ENSP00000261755.5:n.-30+90T>C
ENST00000407106.5:c.-30+26T>C	ENSP00000385080.1:n.-30+26T>C
ENST00000537726.5:n.53+90T>C
ENST00000558022.5:c.-29-95T>C	ENSP00000453152.1:n.-29-95T>C
ENST00000558767.5:n.138T>C
ENST00000561369.1:n.51+26T>C
ENST00000561421.5:c.-124T>C	ENSP00000453347.1:n.-124T>C
NM_000137.2:c.-124T>C	NP_000128.1:n.-124T>C
XM_024449872.1:c.-30+26T>C	XP_024305640.1:n.-30+26T>C
NM_001374377.1:c.-30+26T>C	NP_001361306.1:n.-30+26T>C
NM_001374380.1:c.-30+90T>C	NP_001361309.1:n.-30+90T>C