Canonical Allele Identifier: CA716102494

Gene: FAH

Linked Data

• dbSNP Id: rs1255857319
• MyVariant Identifiers: chr15:g.80445080A>T (hg19) ; chr15:g.80152738A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152738A>T , CM000677.2:g.80152738A>T	GRCh38
NC_000015.9:g.80445080A>T , CM000677.1:g.80445080A>T	GRCh37
NC_000015.8:g.78232135A>T	NCBI36
NG_012833.1:g.4740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+193A>T	ENSP00000453152.1:n.-30+193A>T