Canonical Allele Identifier: CA2692436
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371455
ClinVar RCV Id: RCV000411278
dbSNP Id: rs140080572

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830277C>A , CM000665.2:g.165830277C>A GRCh38
NC_000003.11:g.165548065C>A , CM000665.1:g.165548065C>A GRCh37
NC_000003.10:g.167030759C>A NCBI36
NG_009031.1:g.12189G>T

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.757G>T VV NP_000046.1:p.Gly253Ter
XM_005247685.1:c.880G>T XP_005247742.1:p.Gly294Ter
NM_000055.3:c.757G>T VV NP_000046.1:p.Gly253Ter
NR_137635.1:n.159+7037G>T
NR_137636.1:n.924G>T
NM_000055.4:c.757G>T VV MANE Preferred NP_000046.1:p.Gly253Ter
ENST00000264381.7:c.757G>T ENSP00000264381.3:p.Gly253Ter
ENST00000479451.5:n.107+7037G>T ENSP00000418325.1:p.=
ENST00000482958.1:c.757G>T ENSP00000419804.1:p.Gly253Ter
ENST00000488954.1:n.107+7037G>T ENSP00000418504.1:p.=
ENST00000497011.5:c.757G>T ENSP00000419505.1:p.Gly253Ter