Canonical Allele Identifier: CA716102654

Gene: FAH

Linked Data

• dbSNP Id: rs1227754755
• gnomAD v3: 15-80152949-T-G
• gnomAD v4: 15-80152949-T-G
• MyVariant Identifiers: chr15:g.80445291T>G (hg19) ; chr15:g.80152949T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152949T>G , CM000677.2:g.80152949T>G	GRCh38
NC_000015.9:g.80445291T>G , CM000677.1:g.80445291T>G	GRCh37
NC_000015.8:g.78232346T>G	NCBI36
NG_012833.1:g.4951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-106T>G	ENSP00000507680.1:n.-106T>G
ENST00000261755.9:c.-29-77T>G	ENSP00000261755.5:n.-29-77T>G
ENST00000407106.5:c.-30+44T>G	ENSP00000385080.1:n.-30+44T>G
ENST00000537726.5:n.54-77T>G
ENST00000558022.5:c.-29-77T>G	ENSP00000453152.1:n.-29-77T>G
ENST00000558767.5:n.156T>G
ENST00000561369.1:n.51+44T>G
ENST00000561421.5:c.-106T>G	ENSP00000453347.1:n.-106T>G
NM_000137.2:c.-106T>G	NP_000128.1:n.-106T>G
XM_024449872.1:c.-30+44T>G	XP_024305640.1:n.-30+44T>G
NM_001374377.1:c.-30+44T>G	NP_001361306.1:n.-30+44T>G
NM_001374380.1:c.-29-77T>G	NP_001361309.1:n.-29-77T>G