Canonical Allele Identifier: CA393615396

Gene: FAH

Linked Data

• dbSNP Id: rs2041064990
• gnomAD v4: 15-80153067-C-G
• MyVariant Identifiers: chr15:g.80445409C>G (hg19) ; chr15:g.80153067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153067C>G , CM000677.2:g.80153067C>G	GRCh38
NC_000015.9:g.80445409C>G , CM000677.1:g.80445409C>G	GRCh37
NC_000015.8:g.78232464C>G	NCBI36
NG_012833.1:g.5069C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.13C>G	ENSP00000507680.1:p.Pro5Ala
ENST00000682012.1:n.88C>G
ENST00000684363.1:c.13C>G	ENSP00000507314.1:p.Pro5Ala
ENST00000684569.1:n.58C>G
ENST00000561421.6:c.13C>G MANE Select	ENSP00000453347.2:p.Pro5Ala
ENST00000261755.9:c.13C>G	ENSP00000261755.5:p.Pro5Ala
ENST00000407106.5:c.13C>G	ENSP00000385080.1:p.Pro5Ala
ENST00000537726.5:n.95C>G
ENST00000558022.5:c.13C>G	ENSP00000453152.1:p.Pro5Ala
ENST00000558767.5:n.274C>G
ENST00000561369.1:n.93C>G
ENST00000561421.5:c.13C>G	ENSP00000453347.1:p.Pro5Ala
NM_000137.2:c.13C>G	NP_000128.1:p.Pro5Ala
XM_024449872.1:c.13C>G	XP_024305640.1:p.Pro5Ala
NM_000137.4:c.13C>G MANE Select	NP_000128.1:p.Pro5Ala
NM_001374377.1:c.13C>G	NP_001361306.1:p.Pro5Ala
NM_001374380.1:c.13C>G	NP_001361309.1:p.Pro5Ala