Canonical Allele Identifier: CA122965
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 13218
dbSNP Id: rs28933389

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830222G>A , CM000665.2:g.165830222G>A GRCh38
NC_000003.11:g.165548010G>A , CM000665.1:g.165548010G>A GRCh37
NC_000003.10:g.167030704G>A NCBI36
NG_009031.1:g.12244C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.812C>T MANE Select ENSP00000264381.3:p.Thr271Met
ENST00000264381.7:c.812C>T ENSP00000264381.3:p.Thr271Met
ENST00000479451.5:n.107+7092C>T ENSP00000418325.1:n.107+7092C>T
ENST00000482958.1:c.812C>T ENSP00000419804.1:p.Thr271Met
ENST00000488954.1:n.107+7092C>T ENSP00000418504.1:n.107+7092C>T
ENST00000497011.5:c.812C>T ENSP00000419505.1:p.Thr271Met
NM_000055.2:c.812C>T NP_000046.1:p.Thr271Met
XM_005247685.1:c.935C>T XP_005247742.1:p.Thr312Met
NM_000055.3:c.812C>T NP_000046.1:p.Thr271Met
NR_137635.1:n.159+7092C>T
NR_137636.1:n.979C>T
NM_000055.4:c.812C>T MANE Select NP_000046.1:p.Thr271Met
NR_137635.2:n.110+7092C>T
NR_137636.2:n.930C>T