Canonical Allele Identifier: CA7691226

Gene: FAH

Linked Data

• dbSNP Id: rs567815427
• ExAC: 15:80460575 C / CT
• gnomAD v2: 15-80460575-C-CT
• gnomAD v3: 15-80168233-C-CT
• gnomAD v4: 15-80168233-C-CT
• MyVariant Identifiers: chr15:g.80460575_80460576insT (hg19) ; chr15:g.80168233_80168234insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168233_80168234insT , CM000677.2:g.80168233_80168234insT	GRCh38
NC_000015.9:g.80460575_80460576insT , CM000677.1:g.80460575_80460576insT	GRCh37
NC_000015.8:g.78247630_78247631insT	NCBI36
NG_012833.1:g.20235_20236insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.712_713insT
ENST00000684569.1:n.599-31_599-30insT
ENST00000561421.6:c.554-31_554-30insT MANE Select	ENSP00000453347.2:n.554-31_554-30insT
ENST00000646551.1:n.2181-31_2181-30insT
ENST00000261755.9:c.554-31_554-30insT	ENSP00000261755.5:n.554-31_554-30insT
ENST00000407106.5:c.554-31_554-30insT	ENSP00000385080.1:n.554-31_554-30insT
ENST00000539156.5:c.344-31_344-30insT	ENSP00000454271.1:n.344-31_344-30insT
ENST00000558514.1:n.100-31_100-30insT
ENST00000558627.1:n.482-31_482-30insT
ENST00000561421.5:c.554-31_554-30insT	ENSP00000453347.1:n.554-31_554-30insT
NM_000137.2:c.554-31_554-30insT	NP_000128.1:n.554-31_554-30insT
XM_024449872.1:c.554-31_554-30insT	XP_024305640.1:n.554-31_554-30insT
NM_000137.4:c.554-31_554-30insT MANE Select	NP_000128.1:n.554-31_554-30insT
NM_001374377.1:c.554-31_554-30insT	NP_001361306.1:n.554-31_554-30insT
NM_001374380.1:c.554-31_554-30insT	NP_001361309.1:n.554-31_554-30insT