Canonical Allele Identifier: CA491688124

Gene: FAH

Linked Data

• gnomAD v4: 15-80180198-C-A
• MyVariant Identifiers: chr15:g.80472540C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180198C>A , CM000677.2:g.80180198C>A	GRCh38
NC_000015.9:g.80472540C>A , CM000677.1:g.80472540C>A	GRCh37
NC_000015.8:g.78259595C>A	NCBI36
NG_012833.1:g.32200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1124C>A
ENST00000561421.6:c.1035C>A MANE Select	ENSP00000453347.2:p.Leu345=
ENST00000646551.1:n.2649C>A
ENST00000261755.9:c.1035C>A	ENSP00000261755.5:p.Leu345=
ENST00000407106.5:c.1035C>A	ENSP00000385080.1:p.Leu345=
ENST00000539156.5:c.825C>A	ENSP00000454271.1:p.Leu275=
ENST00000559217.1:n.252C>A
ENST00000561353.2:c.133C>A
ENST00000561421.5:c.1035C>A	ENSP00000453347.1:p.Leu345=
NM_000137.2:c.1035C>A	NP_000128.1:p.Leu345=
XM_024449872.1:c.1035C>A	XP_024305640.1:p.Leu345=
NM_000137.4:c.1035C>A MANE Select	NP_000128.1:p.Leu345=
NM_001374377.1:c.1035C>A	NP_001361306.1:p.Leu345=
NM_001374380.1:c.1035C>A	NP_001361309.1:p.Leu345=