Canonical Allele Identifier: CA1417767965
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs1576848532

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165798668dup , CM000665.2:g.165798668dup GRCh38
NC_000003.11:g.165516456dup , CM000665.1:g.165516456dup GRCh37
NC_000003.10:g.166999150dup NCBI36
NG_009031.1:g.43804dup

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1518-12351dup MANE Select ENSP00000264381.3:n.1518-12351dup
ENST00000264381.7:c.1518-12351dup ENSP00000264381.3:n.1518-12351dup
ENST00000479451.5:c.108-12351dup ENSP00000418325.1:n.108-12351dup
ENST00000482958.1:c.*24-12351dup ENSP00000419804.1:n.*24-12351dup
ENST00000488954.1:c.108-12351dup ENSP00000418504.1:n.108-12351dup
ENST00000497011.5:c.1518-12351dup ENSP00000419505.1:n.1518-12351dup
NM_000055.2:c.1518-12351dup NP_000046.1:n.1518-12351dup
XM_005247685.1:c.1641-12351dup XP_005247742.1:n.1641-12351dup
NM_000055.3:c.1518-12351dup NP_000046.1:n.1518-12351dup
NR_137635.1:n.160-12351dup
NR_137636.1:n.1685-12351dup
NM_000055.4:c.1518-12351dup MANE Select NP_000046.1:n.1518-12351dup
NR_137635.2:n.111-12351dup
NR_137636.2:n.1636-12351dup