Canonical Allele Identifier: CA393619358

Gene: FAH

Linked Data

• MyVariant Identifiers: chr15:g.80454609C>G (hg19) ; chr15:g.80162267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162267C>G , CM000677.2:g.80162267C>G	GRCh38
NC_000015.9:g.80454609C>G , CM000677.1:g.80454609C>G	GRCh37
NC_000015.8:g.78241664C>G	NCBI36
NG_012833.1:g.14269C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.386C>G	ENSP00000507680.1:p.Ser129Cys
ENST00000682012.1:n.461C>G
ENST00000683593.1:n.2049C>G
ENST00000684363.1:c.365-125C>G	ENSP00000507314.1:n.365-125C>G
ENST00000684569.1:n.431C>G
ENST00000561421.6:c.386C>G MANE Select	ENSP00000453347.2:p.Ser129Cys
ENST00000646551.1:n.1873C>G
ENST00000261755.9:c.386C>G	ENSP00000261755.5:p.Ser129Cys
ENST00000407106.5:c.386C>G	ENSP00000385080.1:p.Ser129Cys
ENST00000537726.5:n.532C>G
ENST00000539156.5:c.176C>G	ENSP00000454271.1:p.Ser59Cys
ENST00000558022.5:c.386C>G	ENSP00000453152.1:p.Ser129Cys
ENST00000558627.1:n.314C>G
ENST00000558767.5:n.647C>G
ENST00000561369.1:n.530C>G
ENST00000561421.5:c.386C>G	ENSP00000453347.1:p.Ser129Cys
NM_000137.2:c.386C>G	NP_000128.1:p.Ser129Cys
XM_024449872.1:c.386C>G	XP_024305640.1:p.Ser129Cys
NM_000137.4:c.386C>G MANE Select	NP_000128.1:p.Ser129Cys
NM_001374377.1:c.386C>G	NP_001361306.1:p.Ser129Cys
NM_001374380.1:c.386C>G	NP_001361309.1:p.Ser129Cys