Canonical Allele Identifier: CA393618646

Gene: FAH

Linked Data

• ClinVar Variation Id: 550979
• ClinVar RCV Id: RCV000665905
• dbSNP Id: rs1555440522
• MyVariant Identifiers: chr15:g.80452096A>G (hg19) ; chr15:g.80159754A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159754A>G , CM000677.2:g.80159754A>G	GRCh38
NC_000015.9:g.80452096A>G , CM000677.1:g.80452096A>G	GRCh37
NC_000015.8:g.78239151A>G	NCBI36
NG_012833.1:g.11756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.193-2A>G	ENSP00000507680.1:n.193-2A>G
ENST00000682012.1:n.268-2A>G
ENST00000683593.1:n.70-2A>G
ENST00000684363.1:c.193-2A>G	ENSP00000507314.1:n.193-2A>G
ENST00000684569.1:n.238-2A>G
ENST00000561421.6:c.193-2A>G MANE Select	ENSP00000453347.2:n.193-2A>G
ENST00000646551.1:n.1680-2A>G
ENST00000261755.9:c.193-2A>G	ENSP00000261755.5:n.193-2A>G
ENST00000407106.5:c.193-2A>G	ENSP00000385080.1:n.193-2A>G
ENST00000537726.5:n.275-2A>G
ENST00000539156.5:c.-18-2A>G	ENSP00000454271.1:n.-18-2A>G
ENST00000558022.5:c.193-2A>G	ENSP00000453152.1:n.193-2A>G
ENST00000558767.5:n.454-2A>G
ENST00000561369.1:n.273-2A>G
ENST00000561421.5:c.193-2A>G	ENSP00000453347.1:n.193-2A>G
NM_000137.2:c.193-2A>G	NP_000128.1:n.193-2A>G
XM_024449872.1:c.193-2A>G	XP_024305640.1:n.193-2A>G
NM_000137.4:c.193-2A>G MANE Select	NP_000128.1:n.193-2A>G
NM_001374377.1:c.193-2A>G	NP_001361306.1:n.193-2A>G
NM_001374380.1:c.193-2A>G	NP_001361309.1:n.193-2A>G