Canonical Allele Identifier: CA2190311968

Gene: FAH

Linked Data

• dbSNP Id: rs2041326124

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180973T>C , CM000677.2:g.80180973T>C	GRCh38
NC_000015.9:g.80473315T>C , CM000677.1:g.80473315T>C	GRCh37
NC_000015.8:g.78260370T>C	NCBI36
NG_012833.1:g.32975T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1152-69T>C
ENST00000561421.6:c.1063-69T>C MANE Select	ENSP00000453347.2:n.1063-69T>C
ENST00000646551.1:n.2677-69T>C
ENST00000261755.9:c.1063-69T>C	ENSP00000261755.5:n.1063-69T>C
ENST00000407106.5:c.1063-69T>C	ENSP00000385080.1:n.1063-69T>C
ENST00000539156.5:c.853-69T>C	ENSP00000454271.1:n.853-69T>C
ENST00000559217.1:n.280-69T>C
ENST00000561353.2:c.266-69T>C
ENST00000561421.5:c.1063-69T>C	ENSP00000453347.1:n.1063-69T>C
NM_000137.2:c.1063-69T>C	NP_000128.1:n.1063-69T>C
XM_024449872.1:c.1063-69T>C	XP_024305640.1:n.1063-69T>C
NM_000137.4:c.1063-69T>C MANE Select	NP_000128.1:n.1063-69T>C
NM_001374377.1:c.1063-69T>C	NP_001361306.1:n.1063-69T>C
NM_001374380.1:c.1063-69T>C	NP_001361309.1:n.1063-69T>C