Canonical Allele Identifier: CA11600956
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1355534

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165788069T>C , CM000665.2:g.165788069T>C GRCh38
NC_000003.11:g.165505857T>C , CM000665.1:g.165505857T>C GRCh37
NC_000003.10:g.166988551T>C NCBI36
NG_009031.1:g.54397A>G

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.1518-1758A>G VV NP_000046.1:p.=
XM_005247685.1:c.1641-1758A>G XP_005247742.1:p.=
NM_000055.3:c.1518-1758A>G VV NP_000046.1:p.=
NR_137635.1:n.160-1758A>G
NR_137636.1:n.1685-1758A>G
NM_000055.4:c.1518-1758A>G VV MANE Preferred NP_000046.1:p.=
ENST00000264381.7:c.1518-1758A>G ENSP00000264381.3:p.=
ENST00000479451.5:n.108-1758A>G ENSP00000418325.1:p.=
ENST00000482958.1:c.*24-1758A>G ENSP00000419804.1:p.=
ENST00000488954.1:n.108-1758A>G ENSP00000418504.1:p.=
ENST00000497011.5:c.1518-1758A>G ENSP00000419505.1:p.=