Canonical Allele Identifier: CA3108886089
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829756G= , CM000665.2:g.165829756G= GRCh38
NC_000003.11:g.165547544G= , CM000665.1:g.165547544G= GRCh37
NC_000003.10:g.167030238G= NCBI36
NG_009031.1:g.12710C=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1278C= MANE Select NP_000046.1:p.Phe426=
ENST00000264381.8:c.1278C= MANE Select ENSP00000264381.3:p.Phe426=
NM_000055.2:c.1278C= NP_000046.1:p.Phe426=
NM_000055.3:c.1278C= NP_000046.1:p.Phe426=
NR_137635.1:n.159+7558C=
NR_137635.2:n.110+7558C=
NR_137636.1:n.1445C=
NR_137636.2:n.1396C=
ENST00000264381.7:c.1278C= ENSP00000264381.3:p.Phe426=
ENST00000479451.5:c.107+7558C= ENSP00000418325.1:n.107+7558C=
ENST00000482958.1:c.1278C= ENSP00000419804.1:p.Phe426=
ENST00000488954.1:c.107+7558C= ENSP00000418504.1:n.107+7558C=
ENST00000497011.5:c.1278C= ENSP00000419505.1:p.Phe426=
XM_005247685.1:c.1401C= XP_005247742.1:p.Phe467=