Canonical Allele Identifier: CA7691234

Gene: FAH

Linked Data

• dbSNP Id: rs377104738
• ExAC: 15:80460576 G / GTT
• gnomAD v2: 15-80460576-G-GTT
• gnomAD v3: 15-80168234-G-GTT
• gnomAD v4: 15-80168234-G-GTT
• MyVariant Identifiers: chr15:g.80460578_80460579insTT (hg19) ; chr15:g.80460577_80460578insTT (hg19) ; chr15:g.80460576_80460577insTT (hg19) ; chr15:g.80168235_80168236insTT (hg38) ; chr15:g.80168234_80168235insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168247_80168248dup , CM000677.2:g.80168247_80168248dup	GRCh38
NC_000015.9:g.80460589_80460590dup , CM000677.1:g.80460589_80460590dup	GRCh37
NC_000015.8:g.78247644_78247645dup	NCBI36
NG_012833.1:g.20249_20250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.726_727dup
ENST00000684569.1:n.599-17_599-16dup
ENST00000561421.6:c.554-17_554-16dup MANE Select	ENSP00000453347.2:n.554-17_554-16dup
ENST00000646551.1:n.2181-17_2181-16dup
ENST00000261755.9:c.554-17_554-16dup	ENSP00000261755.5:n.554-17_554-16dup
ENST00000407106.5:c.554-17_554-16dup	ENSP00000385080.1:n.554-17_554-16dup
ENST00000539156.5:c.344-17_344-16dup	ENSP00000454271.1:n.344-17_344-16dup
ENST00000558514.1:n.100-17_100-16dup
ENST00000558627.1:n.482-17_482-16dup
ENST00000561421.5:c.554-17_554-16dup	ENSP00000453347.1:n.554-17_554-16dup
NM_000137.2:c.554-17_554-16dup	NP_000128.1:n.554-17_554-16dup
XM_024449872.1:c.554-17_554-16dup	XP_024305640.1:n.554-17_554-16dup
NM_000137.4:c.554-17_554-16dup MANE Select	NP_000128.1:n.554-17_554-16dup
NM_001374377.1:c.554-17_554-16dup	NP_001361306.1:n.554-17_554-16dup
NM_001374380.1:c.554-17_554-16dup	NP_001361309.1:n.554-17_554-16dup