Canonical Allele Identifier: CA393619771

Gene: FAH

Linked Data

• gnomAD v4: 15-80168057-A-G
• MyVariant Identifiers: chr15:g.80460399A>G (hg19) ; chr15:g.80168057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168057A>G , CM000677.2:g.80168057A>G	GRCh38
NC_000015.9:g.80460399A>G , CM000677.1:g.80460399A>G	GRCh37
NC_000015.8:g.78247454A>G	NCBI36
NG_012833.1:g.20059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.536A>G
ENST00000684569.1:n.506A>G
ENST00000561421.6:c.461A>G MANE Select	ENSP00000453347.2:p.His154Arg
ENST00000646551.1:n.2088A>G
ENST00000261755.9:c.461A>G	ENSP00000261755.5:p.His154Arg
ENST00000407106.5:c.461A>G	ENSP00000385080.1:p.His154Arg
ENST00000539156.5:c.251A>G	ENSP00000454271.1:p.His84Arg
ENST00000558022.5:c.461A>G	ENSP00000453152.1:p.His154Arg
ENST00000558514.1:n.7A>G
ENST00000558627.1:n.389A>G
ENST00000561421.5:c.461A>G	ENSP00000453347.1:p.His154Arg
NM_000137.2:c.461A>G	NP_000128.1:p.His154Arg
XM_024449872.1:c.461A>G	XP_024305640.1:p.His154Arg
NM_000137.4:c.461A>G MANE Select	NP_000128.1:p.His154Arg
NM_001374377.1:c.461A>G	NP_001361306.1:p.His154Arg
NM_001374380.1:c.461A>G	NP_001361309.1:p.His154Arg