Canonical Allele Identifier: CA491688090

Gene: FAH

Linked Data

• dbSNP Id: rs2041317116
• gnomAD v4: 15-80180144-G-T
• MyVariant Identifiers: chr15:g.80472486G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180144G>T , CM000677.2:g.80180144G>T	GRCh38
NC_000015.9:g.80472486G>T , CM000677.1:g.80472486G>T	GRCh37
NC_000015.8:g.78259541G>T	NCBI36
NG_012833.1:g.32146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1070G>T
ENST00000561421.6:c.981G>T MANE Select	ENSP00000453347.2:p.Leu327=
ENST00000646551.1:n.2595G>T
ENST00000261755.9:c.981G>T	ENSP00000261755.5:p.Leu327=
ENST00000407106.5:c.981G>T	ENSP00000385080.1:p.Leu327=
ENST00000539156.5:c.771G>T	ENSP00000454271.1:p.Leu257=
ENST00000559217.1:n.198G>T
ENST00000561353.2:c.79G>T
ENST00000561421.5:c.981G>T	ENSP00000453347.1:p.Leu327=
NM_000137.2:c.981G>T	NP_000128.1:p.Leu327=
XM_024449872.1:c.981G>T	XP_024305640.1:p.Leu327=
NM_000137.4:c.981G>T MANE Select	NP_000128.1:p.Leu327=
NM_001374377.1:c.981G>T	NP_001361306.1:p.Leu327=
NM_001374380.1:c.981G>T	NP_001361309.1:p.Leu327=