Canonical Allele Identifier: CA1417767895
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs915401012

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165798574G>C , CM000665.2:g.165798574G>C GRCh38
NC_000003.11:g.165516362G>C , CM000665.1:g.165516362G>C GRCh37
NC_000003.10:g.166999056G>C NCBI36
NG_009031.1:g.43892C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1518-12263C>G MANE Select ENSP00000264381.3:n.1518-12263C>G
ENST00000264381.7:c.1518-12263C>G ENSP00000264381.3:n.1518-12263C>G
ENST00000479451.5:c.108-12263C>G ENSP00000418325.1:n.108-12263C>G
ENST00000482958.1:c.*24-12263C>G ENSP00000419804.1:n.*24-12263C>G
ENST00000488954.1:c.108-12263C>G ENSP00000418504.1:n.108-12263C>G
ENST00000497011.5:c.1518-12263C>G ENSP00000419505.1:n.1518-12263C>G
NM_000055.2:c.1518-12263C>G NP_000046.1:n.1518-12263C>G
XM_005247685.1:c.1641-12263C>G XP_005247742.1:n.1641-12263C>G
NM_000055.3:c.1518-12263C>G NP_000046.1:n.1518-12263C>G
NR_137635.1:n.160-12263C>G
NR_137636.1:n.1685-12263C>G
NM_000055.4:c.1518-12263C>G MANE Select NP_000046.1:n.1518-12263C>G
NR_137635.2:n.111-12263C>G
NR_137636.2:n.1636-12263C>G