Canonical Allele Identifier: CA2190336483

Gene: FAH

Linked Data

• dbSNP Id: rs1567117345
• gnomAD v4: 15-80168024-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168024C>A , CM000677.2:g.80168024C>A	GRCh38
NC_000015.9:g.80460366C>A , CM000677.1:g.80460366C>A	GRCh37
NC_000015.8:g.78247421C>A	NCBI36
NG_012833.1:g.20026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-28C>A
ENST00000684569.1:n.501-28C>A
ENST00000561421.6:c.456-28C>A MANE Select	ENSP00000453347.2:n.456-28C>A
ENST00000646551.1:n.2083-28C>A
ENST00000261755.9:c.456-28C>A	ENSP00000261755.5:n.456-28C>A
ENST00000407106.5:c.456-28C>A	ENSP00000385080.1:n.456-28C>A
ENST00000539156.5:c.246-28C>A	ENSP00000454271.1:n.246-28C>A
ENST00000558022.5:c.456-28C>A	ENSP00000453152.1:n.456-28C>A
ENST00000558627.1:n.384-28C>A
ENST00000561421.5:c.456-28C>A	ENSP00000453347.1:n.456-28C>A
NM_000137.2:c.456-28C>A	NP_000128.1:n.456-28C>A
XM_024449872.1:c.456-28C>A	XP_024305640.1:n.456-28C>A
NM_000137.4:c.456-28C>A MANE Select	NP_000128.1:n.456-28C>A
NM_001374377.1:c.456-28C>A	NP_001361306.1:n.456-28C>A
NM_001374380.1:c.456-28C>A	NP_001361309.1:n.456-28C>A