Canonical Allele Identifier: CA2629875743

Gene: FAH

Linked Data

• gnomAD v4: 15-80168355-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168358_80168359dup , CM000677.2:g.80168358_80168359dup	GRCh38
NC_000015.9:g.80460700_80460701dup , CM000677.1:g.80460700_80460701dup	GRCh37
NC_000015.8:g.78247755_78247756dup	NCBI36
NG_012833.1:g.20360_20361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+42_795+43dup
ENST00000684569.1:n.651+42_651+43dup
ENST00000561421.6:c.606+42_606+43dup MANE Select	ENSP00000453347.2:n.606+42_606+43dup
ENST00000646551.1:n.2233+42_2233+43dup
ENST00000261755.9:c.606+42_606+43dup	ENSP00000261755.5:n.606+42_606+43dup
ENST00000407106.5:c.606+42_606+43dup	ENSP00000385080.1:n.606+42_606+43dup
ENST00000539156.5:c.396+42_396+43dup	ENSP00000454271.1:n.396+42_396+43dup
ENST00000558514.1:n.194_195dup
ENST00000558627.1:n.534+42_534+43dup
ENST00000561421.5:c.606+42_606+43dup	ENSP00000453347.1:n.606+42_606+43dup
NM_000137.2:c.606+42_606+43dup	NP_000128.1:n.606+42_606+43dup
XM_024449872.1:c.606+42_606+43dup	XP_024305640.1:n.606+42_606+43dup
NM_000137.4:c.606+42_606+43dup MANE Select	NP_000128.1:n.606+42_606+43dup
NM_001374377.1:c.606+42_606+43dup	NP_001361306.1:n.606+42_606+43dup
NM_001374380.1:c.606+42_606+43dup	NP_001361309.1:n.606+42_606+43dup