Canonical Allele Identifier: CA274021576

Gene: FAH

Linked Data

• dbSNP Id: rs906948016
• gnomAD v4: 15-80162569-G-A
• MyVariant Identifiers: chr15:g.80454911G>A (hg19) ; chr15:g.80162569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162569G>A , CM000677.2:g.80162569G>A	GRCh38
NC_000015.9:g.80454911G>A , CM000677.1:g.80454911G>A	GRCh37
NC_000015.8:g.78241966G>A	NCBI36
NG_012833.1:g.14571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*205G>A	ENSP00000507680.1:n.*205G>A
ENST00000682012.1:n.530+233G>A
ENST00000683593.1:n.2351G>A
ENST00000684363.1:c.542G>A	ENSP00000507314.1:n.542G>A
ENST00000684569.1:n.500+233G>A
ENST00000561421.6:c.455+233G>A MANE Select	ENSP00000453347.2:n.455+233G>A
ENST00000646551.1:n.1942+233G>A
ENST00000261755.9:c.455+233G>A	ENSP00000261755.5:n.455+233G>A
ENST00000407106.5:c.455+233G>A	ENSP00000385080.1:n.455+233G>A
ENST00000537726.5:n.834G>A
ENST00000539156.5:c.245+233G>A	ENSP00000454271.1:n.245+233G>A
ENST00000558022.5:c.455+233G>A	ENSP00000453152.1:n.455+233G>A
ENST00000558627.1:n.383+233G>A
ENST00000558767.5:n.949G>A
ENST00000561421.5:c.455+233G>A	ENSP00000453347.1:n.455+233G>A
NM_000137.2:c.455+233G>A	NP_000128.1:n.455+233G>A
XM_024449872.1:c.455+233G>A	XP_024305640.1:n.455+233G>A
NM_000137.4:c.455+233G>A MANE Select	NP_000128.1:n.455+233G>A
NM_001374377.1:c.455+233G>A	NP_001361306.1:n.455+233G>A
NM_001374380.1:c.455+233G>A	NP_001361309.1:n.455+233G>A