Canonical Allele Identifier: CA2573332024

Gene: FAH

Linked Data

• ClinVar Variation Id: 1723177
• ClinVar RCV Id: RCV002306277
• MutSpliceDB: CA2573332024

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162341G>A , CM000677.2:g.80162341G>A	GRCh38
NC_000015.9:g.80454683G>A , CM000677.1:g.80454683G>A	GRCh37
NC_000015.8:g.78241738G>A	NCBI36
NG_012833.1:g.14343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.460G>A	ENSP00000507680.1:p.Glu154Lys
ENST00000682012.1:n.530+5G>A
ENST00000683593.1:n.2123G>A
ENST00000684363.1:c.365-51G>A	ENSP00000507314.1:n.365-51G>A
ENST00000684569.1:n.500+5G>A
ENST00000561421.6:c.455+5G>A MANE Select	ENSP00000453347.2:n.455+5G>A
ENST00000646551.1:n.1942+5G>A
ENST00000261755.9:c.455+5G>A	ENSP00000261755.5:n.455+5G>A
ENST00000407106.5:c.455+5G>A	ENSP00000385080.1:n.455+5G>A
ENST00000537726.5:n.606G>A
ENST00000539156.5:c.245+5G>A	ENSP00000454271.1:n.245+5G>A
ENST00000558022.5:c.455+5G>A	ENSP00000453152.1:n.455+5G>A
ENST00000558627.1:n.383+5G>A
ENST00000558767.5:n.721G>A
ENST00000561369.1:n.604G>A
ENST00000561421.5:c.455+5G>A	ENSP00000453347.1:n.455+5G>A
NM_000137.2:c.455+5G>A	NP_000128.1:n.455+5G>A
XM_024449872.1:c.455+5G>A	XP_024305640.1:n.455+5G>A
NM_000137.4:c.455+5G>A MANE Select	NP_000128.1:n.455+5G>A
NM_001374377.1:c.455+5G>A	NP_001361306.1:n.455+5G>A
NM_001374380.1:c.455+5G>A	NP_001361309.1:n.455+5G>A