Canonical Allele Identifier: CA491671843

Gene: FAH

Linked Data

• dbSNP Id: rs752897835
• gnomAD v2: 15-80445417-C-G
• gnomAD v4: 15-80153075-C-G
• MyVariant Identifiers: chr15:g.80445417C>G (hg19) ; chr15:g.80153075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153075C>G , CM000677.2:g.80153075C>G	GRCh38
NC_000015.9:g.80445417C>G , CM000677.1:g.80445417C>G	GRCh37
NC_000015.8:g.78232472C>G	NCBI36
NG_012833.1:g.5077C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.21C>G	ENSP00000507680.1:p.Ala7=
ENST00000682012.1:n.96C>G
ENST00000684363.1:c.21C>G	ENSP00000507314.1:p.Ala7=
ENST00000684569.1:n.66C>G
ENST00000561421.6:c.21C>G MANE Select	ENSP00000453347.2:p.Ala7=
ENST00000261755.9:c.21C>G	ENSP00000261755.5:p.Ala7=
ENST00000407106.5:c.21C>G	ENSP00000385080.1:p.Ala7=
ENST00000537726.5:n.103C>G
ENST00000558022.5:c.21C>G	ENSP00000453152.1:p.Ala7=
ENST00000558767.5:n.282C>G
ENST00000561369.1:n.101C>G
ENST00000561421.5:c.21C>G	ENSP00000453347.1:p.Ala7=
NM_000137.2:c.21C>G	NP_000128.1:p.Ala7=
XM_024449872.1:c.21C>G	XP_024305640.1:p.Ala7=
NM_000137.4:c.21C>G MANE Select	NP_000128.1:p.Ala7=
NM_001374377.1:c.21C>G	NP_001361306.1:p.Ala7=
NM_001374380.1:c.21C>G	NP_001361309.1:p.Ala7=