Canonical Allele Identifier: CA619267408

Gene: FAH

Linked Data

• dbSNP Id: rs1439432373
• gnomAD v2: 15-80454748-C-G
• gnomAD v4: 15-80162406-C-G
• MyVariant Identifiers: chr15:g.80454748C>G (hg19) ; chr15:g.80162406C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162406C>G , CM000677.2:g.80162406C>G	GRCh38
NC_000015.9:g.80454748C>G , CM000677.1:g.80454748C>G	GRCh37
NC_000015.8:g.78241803C>G	NCBI36
NG_012833.1:g.14408C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*42C>G	ENSP00000507680.1:n.*42C>G
ENST00000682012.1:n.530+70C>G
ENST00000683593.1:n.2188C>G
ENST00000684363.1:c.379C>G	ENSP00000507314.1:p.Gln127Glu
ENST00000684569.1:n.500+70C>G
ENST00000561421.6:c.455+70C>G MANE Select	ENSP00000453347.2:n.455+70C>G
ENST00000646551.1:n.1942+70C>G
ENST00000261755.9:c.455+70C>G	ENSP00000261755.5:n.455+70C>G
ENST00000407106.5:c.455+70C>G	ENSP00000385080.1:n.455+70C>G
ENST00000537726.5:n.671C>G
ENST00000539156.5:c.245+70C>G	ENSP00000454271.1:n.245+70C>G
ENST00000558022.5:c.455+70C>G	ENSP00000453152.1:n.455+70C>G
ENST00000558627.1:n.383+70C>G
ENST00000558767.5:n.786C>G
ENST00000561369.1:n.669C>G
ENST00000561421.5:c.455+70C>G	ENSP00000453347.1:n.455+70C>G
NM_000137.2:c.455+70C>G	NP_000128.1:n.455+70C>G
XM_024449872.1:c.455+70C>G	XP_024305640.1:n.455+70C>G
NM_000137.4:c.455+70C>G MANE Select	NP_000128.1:n.455+70C>G
NM_001374377.1:c.455+70C>G	NP_001361306.1:n.455+70C>G
NM_001374380.1:c.455+70C>G	NP_001361309.1:n.455+70C>G