Canonical Allele Identifier: CA2575809742

Gene: FAH

Linked Data

• ClinVar Variation Id: 2966896
• ClinVar RCV Id: RCV003829030
• gnomAD v4: 15-80168252-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168252G>A , CM000677.2:g.80168252G>A	GRCh38
NC_000015.9:g.80460594G>A , CM000677.1:g.80460594G>A	GRCh37
NC_000015.8:g.78247649G>A	NCBI36
NG_012833.1:g.20254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.731G>A
ENST00000684569.1:n.599-12G>A
ENST00000561421.6:c.554-12G>A MANE Select	ENSP00000453347.2:n.554-12G>A
ENST00000646551.1:n.2181-12G>A
ENST00000261755.9:c.554-12G>A	ENSP00000261755.5:n.554-12G>A
ENST00000407106.5:c.554-12G>A	ENSP00000385080.1:n.554-12G>A
ENST00000539156.5:c.344-12G>A	ENSP00000454271.1:n.344-12G>A
ENST00000558514.1:n.100-12G>A
ENST00000558627.1:n.482-12G>A
ENST00000561421.5:c.554-12G>A	ENSP00000453347.1:n.554-12G>A
NM_000137.2:c.554-12G>A	NP_000128.1:n.554-12G>A
XM_024449872.1:c.554-12G>A	XP_024305640.1:n.554-12G>A
NM_000137.4:c.554-12G>A MANE Select	NP_000128.1:n.554-12G>A
NM_001374377.1:c.554-12G>A	NP_001361306.1:n.554-12G>A
NM_001374380.1:c.554-12G>A	NP_001361309.1:n.554-12G>A