Canonical Allele Identifier: CA2629874927

Gene: FAH

Linked Data

• gnomAD v4: 15-80167930-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167932_80167933dup , CM000677.2:g.80167932_80167933dup	GRCh38
NC_000015.9:g.80460274_80460275dup , CM000677.1:g.80460274_80460275dup	GRCh37
NC_000015.8:g.78247329_78247330dup	NCBI36
NG_012833.1:g.19934_19935dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-120_531-119dup
ENST00000684569.1:n.501-120_501-119dup
ENST00000561421.6:c.456-120_456-119dup MANE Select	ENSP00000453347.2:n.456-120_456-119dup
ENST00000646551.1:n.2083-120_2083-119dup
ENST00000261755.9:c.456-120_456-119dup	ENSP00000261755.5:n.456-120_456-119dup
ENST00000407106.5:c.456-120_456-119dup	ENSP00000385080.1:n.456-120_456-119dup
ENST00000539156.5:c.246-120_246-119dup	ENSP00000454271.1:n.246-120_246-119dup
ENST00000558022.5:c.456-120_456-119dup	ENSP00000453152.1:n.456-120_456-119dup
ENST00000558627.1:n.384-120_384-119dup
ENST00000561421.5:c.456-120_456-119dup	ENSP00000453347.1:n.456-120_456-119dup
NM_000137.2:c.456-120_456-119dup	NP_000128.1:n.456-120_456-119dup
XM_024449872.1:c.456-120_456-119dup	XP_024305640.1:n.456-120_456-119dup
NM_000137.4:c.456-120_456-119dup MANE Select	NP_000128.1:n.456-120_456-119dup
NM_001374377.1:c.456-120_456-119dup	NP_001361306.1:n.456-120_456-119dup
NM_001374380.1:c.456-120_456-119dup	NP_001361309.1:n.456-120_456-119dup