Canonical Allele Identifier: CA2692459
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 370854
dbSNP Id: rs114706984

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830399G>A , CM000665.2:g.165830399G>A GRCh38
NC_000003.11:g.165548187G>A , CM000665.1:g.165548187G>A GRCh37
NC_000003.10:g.167030881G>A NCBI36
NG_009031.1:g.12067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.635C>T MANE Select ENSP00000264381.3:p.Ala212Val
ENST00000264381.7:c.635C>T ENSP00000264381.3:p.Ala212Val
ENST00000479451.5:c.107+6915C>T ENSP00000418325.1:n.107+6915C>T
ENST00000482958.1:c.635C>T ENSP00000419804.1:p.Ala212Val
ENST00000488954.1:c.107+6915C>T ENSP00000418504.1:n.107+6915C>T
ENST00000497011.5:c.635C>T ENSP00000419505.1:p.Ala212Val
NM_000055.2:c.635C>T NP_000046.1:p.Ala212Val
XM_005247685.1:c.758C>T XP_005247742.1:p.Ala253Val
NM_000055.3:c.635C>T NP_000046.1:p.Ala212Val
NR_137635.1:n.159+6915C>T
NR_137636.1:n.802C>T
NM_000055.4:c.635C>T MANE Select NP_000046.1:p.Ala212Val
NR_137635.2:n.110+6915C>T
NR_137636.2:n.753C>T