Canonical Allele Identifier: CA2692507
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 371104
ClinVar RCV Id: RCV000409468
dbSNP Id: rs760182781

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830595G>A , CM000665.2:g.165830595G>A GRCh38
NC_000003.11:g.165548383G>A , CM000665.1:g.165548383G>A GRCh37
NC_000003.10:g.167031077G>A NCBI36
NG_009031.1:g.11871C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.439C>T MANE Select ENSP00000264381.3:p.Gln147Ter
ENST00000264381.7:c.439C>T ENSP00000264381.3:p.Gln147Ter
ENST00000479451.5:n.107+6719C>T ENSP00000418325.1:p.=
ENST00000482958.1:c.439C>T ENSP00000419804.1:p.Gln147Ter
ENST00000488954.1:n.107+6719C>T ENSP00000418504.1:p.=
ENST00000497011.5:c.439C>T ENSP00000419505.1:p.Gln147Ter
NM_000055.2:c.439C>T NP_000046.1:p.Gln147Ter
XM_005247685.1:c.562C>T XP_005247742.1:p.Gln188Ter
NM_000055.3:c.439C>T NP_000046.1:p.Gln147Ter
NR_137635.1:n.159+6719C>T
NR_137636.1:n.606C>T
NM_000055.4:c.439C>T MANE Select NP_000046.1:p.Gln147Ter
NR_137635.2:n.110+6719C>T
NR_137636.2:n.557C>T