Canonical Allele Identifier: CA2692299
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 550155
ClinVar RCV Id: RCV000664821
dbSNP Id: rs115017300

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829542G>A , CM000665.2:g.165829542G>A GRCh38
NC_000003.11:g.165547330G>A , CM000665.1:g.165547330G>A GRCh37
NC_000003.10:g.167030024G>A NCBI36
NG_009031.1:g.12924C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1492C>T MANE Select ENSP00000264381.3:p.Arg498Trp
ENST00000264381.7:c.1492C>T ENSP00000264381.3:p.Arg498Trp
ENST00000479451.5:c.107+7772C>T ENSP00000418325.1:n.107+7772C>T
ENST00000482958.1:c.1492C>T ENSP00000419804.1:p.Arg498Trp
ENST00000488954.1:c.107+7772C>T ENSP00000418504.1:n.107+7772C>T
ENST00000497011.5:c.1492C>T ENSP00000419505.1:p.Arg498Trp
NM_000055.2:c.1492C>T NP_000046.1:p.Arg498Trp
XM_005247685.1:c.1615C>T XP_005247742.1:p.Arg539Trp
NM_000055.3:c.1492C>T NP_000046.1:p.Arg498Trp
NR_137635.1:n.159+7772C>T
NR_137636.1:n.1659C>T
NM_000055.4:c.1492C>T MANE Select NP_000046.1:p.Arg498Trp
NR_137635.2:n.110+7772C>T
NR_137636.2:n.1610C>T