Canonical Allele Identifier: CA16040921
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371372
ClinVar RCV Id: RCV000409809
dbSNP Id: rs1057517221

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829851C>A , CM000665.2:g.165829851C>A GRCh38
NC_000003.10:g.167030333C>A NCBI36
NC_000003.11:g.165547639C>A , CM000665.1:g.165547639C>A GRCh37
NG_009031.1:g.12615G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.7:c.1183G>T ENSP00000264381.3:p.Glu395Ter
ENST00000479451.5:n.107+7463G>T ENSP00000418325.1:p.=
ENST00000482958.1:c.1183G>T ENSP00000419804.1:p.Glu395Ter
ENST00000488954.1:n.107+7463G>T ENSP00000418504.1:p.=
ENST00000497011.5:c.1183G>T ENSP00000419505.1:p.Glu395Ter
NM_000055.2:c.1183G>T VV NP_000046.1:p.Glu395Ter
XM_005247685.1:c.1306G>T XP_005247742.1:p.Glu436Ter
NM_000055.3:c.1183G>T VV
NR_137635.1:n.159+7463G>T
NR_137636.1:n.1350G>T