Canonical Allele Identifier: CA716102592

Gene: FAH

Linked Data

• dbSNP Id: rs1482414423
• gnomAD v4: 15-80152848-G-A
• MyVariant Identifiers: chr15:g.80445190G>A (hg19) ; chr15:g.80152848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152848G>A , CM000677.2:g.80152848G>A	GRCh38
NC_000015.9:g.80445190G>A , CM000677.1:g.80445190G>A	GRCh37
NC_000015.8:g.78232245G>A	NCBI36
NG_012833.1:g.4850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-207G>A	ENSP00000507680.1:n.-207G>A
ENST00000261755.9:c.-30+7G>A	ENSP00000261755.5:n.-30+7G>A
ENST00000407106.5:c.-87G>A	ENSP00000385080.1:n.-87G>A
ENST00000537726.5:n.53+7G>A
ENST00000558022.5:c.-29-178G>A	ENSP00000453152.1:n.-29-178G>A
ENST00000558767.5:n.55G>A
XM_024449872.1:c.-87G>A	XP_024305640.1:n.-87G>A
NM_001374377.1:c.-87G>A	NP_001361306.1:n.-87G>A
NM_001374380.1:c.-30+7G>A	NP_001361309.1:n.-30+7G>A