Canonical Allele Identifier: CA919600305

Gene: FAH

Linked Data

• dbSNP Id: rs1595893008

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168004_80168006dup , CM000677.2:g.80168004_80168006dup	GRCh38
NC_000015.9:g.80460346_80460348dup , CM000677.1:g.80460346_80460348dup	GRCh37
NC_000015.8:g.78247401_78247403dup	NCBI36
NG_012833.1:g.20006_20008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-48_531-46dup
ENST00000684569.1:n.501-48_501-46dup
ENST00000561421.6:c.456-48_456-46dup MANE Select	ENSP00000453347.2:n.456-48_456-46dup
ENST00000646551.1:n.2083-48_2083-46dup
ENST00000261755.9:c.456-48_456-46dup	ENSP00000261755.5:n.456-48_456-46dup
ENST00000407106.5:c.456-48_456-46dup	ENSP00000385080.1:n.456-48_456-46dup
ENST00000539156.5:c.246-48_246-46dup	ENSP00000454271.1:n.246-48_246-46dup
ENST00000558022.5:c.456-48_456-46dup	ENSP00000453152.1:n.456-48_456-46dup
ENST00000558627.1:n.384-48_384-46dup
ENST00000561421.5:c.456-48_456-46dup	ENSP00000453347.1:n.456-48_456-46dup
NM_000137.2:c.456-48_456-46dup	NP_000128.1:n.456-48_456-46dup
XM_024449872.1:c.456-48_456-46dup	XP_024305640.1:n.456-48_456-46dup
NM_000137.4:c.456-48_456-46dup MANE Select	NP_000128.1:n.456-48_456-46dup
NM_001374377.1:c.456-48_456-46dup	NP_001361306.1:n.456-48_456-46dup
NM_001374380.1:c.456-48_456-46dup	NP_001361309.1:n.456-48_456-46dup