Canonical Allele Identifier: CA491688091

Gene: FAH

Linked Data

• dbSNP Id: rs1247692724
• gnomAD v2: 15-80472489-G-A
• gnomAD v4: 15-80180147-G-A
• MyVariant Identifiers: chr15:g.80472489G>A (hg19) ; chr15:g.80180147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180147G>A , CM000677.2:g.80180147G>A	GRCh38
NC_000015.9:g.80472489G>A , CM000677.1:g.80472489G>A	GRCh37
NC_000015.8:g.78259544G>A	NCBI36
NG_012833.1:g.32149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1073G>A
ENST00000561421.6:c.984G>A MANE Select	ENSP00000453347.2:p.Gln328=
ENST00000646551.1:n.2598G>A
ENST00000261755.9:c.984G>A	ENSP00000261755.5:p.Gln328=
ENST00000407106.5:c.984G>A	ENSP00000385080.1:p.Gln328=
ENST00000539156.5:c.774G>A	ENSP00000454271.1:p.Gln258=
ENST00000559217.1:n.201G>A
ENST00000561353.2:c.82G>A
ENST00000561421.5:c.984G>A	ENSP00000453347.1:p.Gln328=
NM_000137.2:c.984G>A	NP_000128.1:p.Gln328=
XM_024449872.1:c.984G>A	XP_024305640.1:p.Gln328=
NM_000137.4:c.984G>A MANE Select	NP_000128.1:p.Gln328=
NM_001374377.1:c.984G>A	NP_001361306.1:p.Gln328=
NM_001374380.1:c.984G>A	NP_001361309.1:p.Gln328=