Canonical Allele Identifier: CA16040922
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370388
ClinVar RCV Id: RCV000410462
dbSNP Id: rs1057516450

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829966dup , CM000665.2:g.165829966dup GRCh38
NC_000003.11:g.165547754dup , CM000665.1:g.165547754dup GRCh37
NC_000003.10:g.167030448dup NCBI36
NG_009031.1:g.12505dup

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.1073dup VV
XM_005247685.1:c.1196dup
NM_000055.3:c.1073dup VV
NR_137635.1:n.159+7353dup
NR_137636.1:n.1240dup
NM_000055.4:c.1073dup VV MANE Preferred
ENST00000264381.7:c.1073dup
ENST00000479451.5:n.107+7353dup ENSP00000418325.1:p.=
ENST00000482958.1:c.1073dup
ENST00000488954.1:n.107+7353dup ENSP00000418504.1:p.=
ENST00000497011.5:c.1073dup