Canonical Allele Identifier: CA2580090067

Gene: FAH

Linked Data

• ClinVar Variation Id: 2161943
• ClinVar RCV Id: RCV003078828

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177588G>A , CM000677.2:g.80177588G>A	GRCh38
NC_000015.9:g.80469930G>A , CM000677.1:g.80469930G>A	GRCh37
NC_000015.8:g.78256985G>A	NCBI36
NG_012833.1:g.29590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1049+5G>A
ENST00000561421.6:c.960+5G>A MANE Select	ENSP00000453347.2:n.960+5G>A
ENST00000646551.1:n.2574+5G>A
ENST00000261755.9:c.960+5G>A	ENSP00000261755.5:n.960+5G>A
ENST00000407106.5:c.960+5G>A	ENSP00000385080.1:n.960+5G>A
ENST00000539156.5:c.750+5G>A	ENSP00000454271.1:n.750+5G>A
ENST00000559217.1:n.177+5G>A
ENST00000561353.2:c.58+5G>A
ENST00000561421.5:c.960+5G>A	ENSP00000453347.1:n.960+5G>A
NM_000137.2:c.960+5G>A	NP_000128.1:n.960+5G>A
XM_024449872.1:c.960+5G>A	XP_024305640.1:n.960+5G>A
NM_000137.4:c.960+5G>A MANE Select	NP_000128.1:n.960+5G>A
NM_001374377.1:c.960+5G>A	NP_001361306.1:n.960+5G>A
NM_001374380.1:c.960+5G>A	NP_001361309.1:n.960+5G>A