Canonical Allele Identifier: CA16040915
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 370446
ClinVar RCV Id: RCV000410863
dbSNP Id: rs1057516496

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165786144C>A , CM000665.2:g.165786144C>A GRCh38
NC_000003.11:g.165503932C>A , CM000665.1:g.165503932C>A GRCh37
NC_000003.10:g.166986626C>A NCBI36
NG_009031.1:g.56322G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1684+1G>T MANE Select ENSP00000264381.3:n.1684+1G>T
ENST00000264381.7:c.1684+1G>T ENSP00000264381.3:n.1684+1G>T
ENST00000479451.5:c.274+1G>T ENSP00000418325.1:n.274+1G>T
ENST00000482958.1:c.*190+1G>T ENSP00000419804.1:n.*190+1G>T
ENST00000488954.1:c.274+1G>T ENSP00000418504.1:n.274+1G>T
ENST00000497011.5:c.1684+1G>T ENSP00000419505.1:n.1684+1G>T
NM_000055.2:c.1684+1G>T NP_000046.1:n.1684+1G>T
XM_005247685.1:c.1807+1G>T XP_005247742.1:n.1807+1G>T
NM_000055.3:c.1684+1G>T NP_000046.1:n.1684+1G>T
NR_137635.1:n.326+1G>T
NR_137636.1:n.1851+1G>T
NM_000055.4:c.1684+1G>T MANE Select NP_000046.1:n.1684+1G>T
NR_137635.2:n.277+1G>T
NR_137636.2:n.1802+1G>T