Canonical Allele Identifier: CA619266138

Gene: FAH

Linked Data

• dbSNP Id: rs1394211779
• gnomAD v2: 15-80444915-T-G
• gnomAD v3: 15-80152573-T-G
• gnomAD v4: 15-80152573-T-G
• MyVariant Identifiers: chr15:g.80444915T>G (hg19) ; chr15:g.80152573T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152573T>G , CM000677.2:g.80152573T>G	GRCh38
NC_000015.9:g.80444915T>G , CM000677.1:g.80444915T>G	GRCh37
NC_000015.8:g.78231970T>G	NCBI36
NG_012833.1:g.4575T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+28T>G	ENSP00000453152.1:n.-30+28T>G