Canonical Allele Identifier: CA274037010

Gene: FAH

Linked Data

• dbSNP Id: rs1020717976
• gnomAD v2: 15-80478481-A-AG
• gnomAD v3: 15-80186139-A-AG
• gnomAD v4: 15-80186139-A-AG
• MyVariant Identifiers: chr15:g.80478481_80478482insG (hg19) ; chr15:g.80186139_80186140insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186144dup , CM000677.2:g.80186144dup	GRCh38
NC_000015.9:g.80478486dup , CM000677.1:g.80478486dup	GRCh37
NC_000015.8:g.78265541dup	NCBI36
NG_012833.1:g.38146dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1284dup
ENST00000561421.6:c.1195dup MANE Select	ENSP00000453347.2:p.Asp399GlyfsTer?
ENST00000646551.1:n.2809dup
ENST00000261755.9:c.1195dup	ENSP00000261755.5:p.Asp399GlyfsTer?
ENST00000407106.5:c.1195dup	ENSP00000385080.1:p.Asp399GlyfsTer?
ENST00000539156.5:c.985dup	ENSP00000454271.1:p.Asp329GlyfsTer?
ENST00000559217.1:n.412dup
ENST00000561421.5:c.1195dup	ENSP00000453347.1:p.Asp399GlyfsTer?
NM_000137.2:c.1195dup	NP_000128.1:p.Asp399GlyfsTer?
XM_024449872.1:c.1195dup	XP_024305640.1:p.Asp399GlyfsTer?
NM_000137.4:c.1195dup MANE Select	NP_000128.1:p.Asp399GlyfsTer?
NM_001374377.1:c.1195dup	NP_001361306.1:p.Asp399GlyfsTer?
NM_001374380.1:c.1195dup	NP_001361309.1:p.Asp399GlyfsTer?