Canonical Allele Identifier: CA2692267
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 344089
dbSNP Id: rs142531034

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165786317T>C , CM000665.2:g.165786317T>C GRCh38
NC_000003.11:g.165504105T>C , CM000665.1:g.165504105T>C GRCh37
NC_000003.10:g.166986799T>C NCBI36
NG_009031.1:g.56149A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1518-6A>G MANE Select ENSP00000264381.3:n.1518-6A>G
ENST00000264381.7:c.1518-6A>G ENSP00000264381.3:n.1518-6A>G
ENST00000479451.5:c.108-6A>G ENSP00000418325.1:n.108-6A>G
ENST00000482958.1:c.*24-6A>G ENSP00000419804.1:n.*24-6A>G
ENST00000488954.1:c.108-6A>G ENSP00000418504.1:n.108-6A>G
ENST00000497011.5:c.1518-6A>G ENSP00000419505.1:n.1518-6A>G
NM_000055.2:c.1518-6A>G NP_000046.1:n.1518-6A>G
XM_005247685.1:c.1641-6A>G XP_005247742.1:n.1641-6A>G
NM_000055.3:c.1518-6A>G NP_000046.1:n.1518-6A>G
NR_137635.1:n.160-6A>G
NR_137636.1:n.1685-6A>G
NM_000055.4:c.1518-6A>G MANE Select NP_000046.1:n.1518-6A>G
NR_137635.2:n.111-6A>G
NR_137636.2:n.1636-6A>G