Canonical Allele Identifier: CA393615461

Gene: FAH

Linked Data

• dbSNP Id: rs2041065338
• gnomAD v3: 15-80153083-C-G
• gnomAD v4: 15-80153083-C-G
• MyVariant Identifiers: chr15:g.80445425C>G (hg19) ; chr15:g.80153083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153083C>G , CM000677.2:g.80153083C>G	GRCh38
NC_000015.9:g.80445425C>G , CM000677.1:g.80445425C>G	GRCh37
NC_000015.8:g.78232480C>G	NCBI36
NG_012833.1:g.5085C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.29C>G	ENSP00000507680.1:p.Ser10Cys
ENST00000682012.1:n.104C>G
ENST00000684363.1:c.29C>G	ENSP00000507314.1:p.Ser10Cys
ENST00000684569.1:n.74C>G
ENST00000561421.6:c.29C>G MANE Select	ENSP00000453347.2:p.Ser10Cys
ENST00000261755.9:c.29C>G	ENSP00000261755.5:p.Ser10Cys
ENST00000407106.5:c.29C>G	ENSP00000385080.1:p.Ser10Cys
ENST00000537726.5:n.111C>G
ENST00000558022.5:c.29C>G	ENSP00000453152.1:p.Ser10Cys
ENST00000558767.5:n.290C>G
ENST00000561369.1:n.109C>G
ENST00000561421.5:c.29C>G	ENSP00000453347.1:p.Ser10Cys
NM_000137.2:c.29C>G	NP_000128.1:p.Ser10Cys
XM_024449872.1:c.29C>G	XP_024305640.1:p.Ser10Cys
NM_000137.4:c.29C>G MANE Select	NP_000128.1:p.Ser10Cys
NM_001374377.1:c.29C>G	NP_001361306.1:p.Ser10Cys
NM_001374380.1:c.29C>G	NP_001361309.1:p.Ser10Cys