Canonical Allele Identifier: CA971899508

Gene: FAH

Linked Data

• dbSNP Id: rs1595897227
• gnomAD v3: 15-80179991-T-C
• gnomAD v4: 15-80179991-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179991T>C , CM000677.2:g.80179991T>C	GRCh38
NC_000015.9:g.80472333T>C , CM000677.1:g.80472333T>C	GRCh37
NC_000015.8:g.78259388T>C	NCBI36
NG_012833.1:g.31993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-133T>C
ENST00000561421.6:c.961-133T>C MANE Select	ENSP00000453347.2:n.961-133T>C
ENST00000646551.1:n.2575-133T>C
ENST00000261755.9:c.961-133T>C	ENSP00000261755.5:n.961-133T>C
ENST00000407106.5:c.961-133T>C	ENSP00000385080.1:n.961-133T>C
ENST00000539156.5:c.751-133T>C	ENSP00000454271.1:n.751-133T>C
ENST00000559217.1:n.178-133T>C
ENST00000561353.2:c.59-133T>C
ENST00000561421.5:c.961-133T>C	ENSP00000453347.1:n.961-133T>C
NM_000137.2:c.961-133T>C	NP_000128.1:n.961-133T>C
XM_024449872.1:c.961-133T>C	XP_024305640.1:n.961-133T>C
NM_000137.4:c.961-133T>C MANE Select	NP_000128.1:n.961-133T>C
NM_001374377.1:c.961-133T>C	NP_001361306.1:n.961-133T>C
NM_001374380.1:c.961-133T>C	NP_001361309.1:n.961-133T>C