Canonical Allele Identifier: CA122966
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 13219
dbSNP Id: rs28933390

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829781C>A , CM000665.2:g.165829781C>A GRCh38
NC_000003.11:g.165547569C>A , CM000665.1:g.165547569C>A GRCh37
NC_000003.10:g.167030263C>A NCBI36
NG_009031.1:g.12685G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1253G>T MANE Select ENSP00000264381.3:p.Gly418Val
ENST00000264381.7:c.1253G>T ENSP00000264381.3:p.Gly418Val
ENST00000479451.5:n.107+7533G>T ENSP00000418325.1:n.107+7533G>T
ENST00000482958.1:c.1253G>T ENSP00000419804.1:p.Gly418Val
ENST00000488954.1:n.107+7533G>T ENSP00000418504.1:n.107+7533G>T
ENST00000497011.5:c.1253G>T ENSP00000419505.1:p.Gly418Val
NM_000055.2:c.1253G>T NP_000046.1:p.Gly418Val
XM_005247685.1:c.1376G>T XP_005247742.1:p.Gly459Val
NM_000055.3:c.1253G>T NP_000046.1:p.Gly418Val
NR_137635.1:n.159+7533G>T
NR_137636.1:n.1420G>T
NM_000055.4:c.1253G>T MANE Select NP_000046.1:p.Gly418Val
NR_137635.2:n.110+7533G>T
NR_137636.2:n.1371G>T