Canonical Allele Identifier: CA7691524

Gene: FAH

Linked Data

• ClinVar Variation Id: 1550424
• ClinVar RCV Id: RCV002175446
• dbSNP Id: rs750983382
• ExAC: 15:80478465 G / A
• gnomAD v2: 15-80478465-G-A
• gnomAD v4: 15-80186123-G-A
• MyVariant Identifiers: chr15:g.80478465G>A (hg19) ; chr15:g.80186123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186123G>A , CM000677.2:g.80186123G>A	GRCh38
NC_000015.9:g.80478465G>A , CM000677.1:g.80478465G>A	GRCh37
NC_000015.8:g.78265520G>A	NCBI36
NG_012833.1:g.38125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-7G>A
ENST00000561421.6:c.1181-7G>A MANE Select	ENSP00000453347.2:n.1181-7G>A
ENST00000646551.1:n.2795-7G>A
ENST00000261755.9:c.1181-7G>A	ENSP00000261755.5:n.1181-7G>A
ENST00000407106.5:c.1181-7G>A	ENSP00000385080.1:n.1181-7G>A
ENST00000539156.5:c.971-7G>A	ENSP00000454271.1:n.971-7G>A
ENST00000559217.1:n.398-7G>A
ENST00000561421.5:c.1181-7G>A	ENSP00000453347.1:n.1181-7G>A
NM_000137.2:c.1181-7G>A	NP_000128.1:n.1181-7G>A
XM_024449872.1:c.1181-7G>A	XP_024305640.1:n.1181-7G>A
NM_000137.4:c.1181-7G>A MANE Select	NP_000128.1:n.1181-7G>A
NM_001374377.1:c.1181-7G>A	NP_001361306.1:n.1181-7G>A
NM_001374380.1:c.1181-7G>A	NP_001361309.1:n.1181-7G>A