Canonical Allele Identifier: CA393619841

Gene: FAH

Linked Data

• ClinVar Variation Id: 1440957
• ClinVar RCV Id: RCV001937019
• dbSNP Id: rs2142097922
• MyVariant Identifiers: chr15:g.80460432C>G (hg19) ; chr15:g.80168090C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168090C>G , CM000677.2:g.80168090C>G	GRCh38
NC_000015.9:g.80460432C>G , CM000677.1:g.80460432C>G	GRCh37
NC_000015.8:g.78247487C>G	NCBI36
NG_012833.1:g.20092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.569C>G
ENST00000684569.1:n.539C>G
ENST00000561421.6:c.494C>G MANE Select	ENSP00000453347.2:p.Ser165Cys
ENST00000646551.1:n.2121C>G
ENST00000261755.9:c.494C>G	ENSP00000261755.5:p.Ser165Cys
ENST00000407106.5:c.494C>G	ENSP00000385080.1:p.Ser165Cys
ENST00000539156.5:c.284C>G	ENSP00000454271.1:p.Ser95Cys
ENST00000558514.1:n.40C>G
ENST00000558627.1:n.422C>G
ENST00000561421.5:c.494C>G	ENSP00000453347.1:p.Ser165Cys
NM_000137.2:c.494C>G	NP_000128.1:p.Ser165Cys
XM_024449872.1:c.494C>G	XP_024305640.1:p.Ser165Cys
NM_000137.4:c.494C>G MANE Select	NP_000128.1:p.Ser165Cys
NM_001374377.1:c.494C>G	NP_001361306.1:p.Ser165Cys
NM_001374380.1:c.494C>G	NP_001361309.1:p.Ser165Cys