Canonical Allele Identifier: CA393618779

Gene: FAH

Linked Data

• gnomAD v4: 15-80159783-G-A
• MyVariant Identifiers: chr15:g.80452125G>A (hg19) ; chr15:g.80159783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159783G>A , CM000677.2:g.80159783G>A	GRCh38
NC_000015.9:g.80452125G>A , CM000677.1:g.80452125G>A	GRCh37
NC_000015.8:g.78239180G>A	NCBI36
NG_012833.1:g.11785G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.220G>A	ENSP00000507680.1:p.Gly74Ser
ENST00000682012.1:n.295G>A
ENST00000683593.1:n.97G>A
ENST00000684363.1:c.220G>A	ENSP00000507314.1:p.Gly74Ser
ENST00000684569.1:n.265G>A
ENST00000561421.6:c.220G>A MANE Select	ENSP00000453347.2:p.Gly74Ser
ENST00000646551.1:n.1707G>A
ENST00000261755.9:c.220G>A	ENSP00000261755.5:p.Gly74Ser
ENST00000407106.5:c.220G>A	ENSP00000385080.1:p.Gly74Ser
ENST00000537726.5:n.302G>A
ENST00000539156.5:c.10G>A	ENSP00000454271.1:p.Gly4Ser
ENST00000558022.5:c.220G>A	ENSP00000453152.1:p.Gly74Ser
ENST00000558767.5:n.481G>A
ENST00000561369.1:n.300G>A
ENST00000561421.5:c.220G>A	ENSP00000453347.1:p.Gly74Ser
NM_000137.2:c.220G>A	NP_000128.1:p.Gly74Ser
XM_024449872.1:c.220G>A	XP_024305640.1:p.Gly74Ser
NM_000137.4:c.220G>A MANE Select	NP_000128.1:p.Gly74Ser
NM_001374377.1:c.220G>A	NP_001361306.1:p.Gly74Ser
NM_001374380.1:c.220G>A	NP_001361309.1:p.Gly74Ser