Canonical Allele Identifier: CA7691208

Gene: FAH

Linked Data

• ClinVar Variation Id: 765812
• ClinVar RCV Id: RCV000944274
• dbSNP Id: rs537190415
• ExAC: 15:80460481 A / G
• gnomAD v2: 15-80460481-A-G
• gnomAD v3: 15-80168139-A-G
• gnomAD v4: 15-80168139-A-G
• MyVariant Identifiers: chr15:g.80460481A>G (hg19) ; chr15:g.80168139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168139A>G , CM000677.2:g.80168139A>G	GRCh38
NC_000015.9:g.80460481A>G , CM000677.1:g.80460481A>G	GRCh37
NC_000015.8:g.78247536A>G	NCBI36
NG_012833.1:g.20141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.618A>G
ENST00000684569.1:n.588A>G
ENST00000561421.6:c.543A>G MANE Select	ENSP00000453347.2:p.Lys181=
ENST00000646551.1:n.2170A>G
ENST00000261755.9:c.543A>G	ENSP00000261755.5:p.Lys181=
ENST00000407106.5:c.543A>G	ENSP00000385080.1:p.Lys181=
ENST00000539156.5:c.333A>G	ENSP00000454271.1:p.Lys111=
ENST00000558514.1:n.89A>G
ENST00000558627.1:n.471A>G
ENST00000561421.5:c.543A>G	ENSP00000453347.1:p.Lys181=
NM_000137.2:c.543A>G	NP_000128.1:p.Lys181=
XM_024449872.1:c.543A>G	XP_024305640.1:p.Lys181=
NM_000137.4:c.543A>G MANE Select	NP_000128.1:p.Lys181=
NM_001374377.1:c.543A>G	NP_001361306.1:p.Lys181=
NM_001374380.1:c.543A>G	NP_001361309.1:p.Lys181=