Canonical Allele Identifier: CA122963
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 13215
dbSNP Id: rs1799807

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830741T>C , CM000665.2:g.165830741T>C GRCh38
NC_000003.11:g.165548529T>C , CM000665.1:g.165548529T>C GRCh37
NC_000003.10:g.167031223T>C NCBI36
NG_009031.1:g.11725A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.293A>G MANE Select ENSP00000264381.3:p.Asp98Gly
ENST00000264381.7:c.293A>G ENSP00000264381.3:p.Asp98Gly
ENST00000479451.5:n.107+6573A>G ENSP00000418325.1:p.=
ENST00000482958.1:c.293A>G ENSP00000419804.1:p.Asp98Gly
ENST00000488954.1:n.107+6573A>G ENSP00000418504.1:p.=
ENST00000497011.5:c.293A>G ENSP00000419505.1:p.Asp98Gly
NM_000055.2:c.293A>G NP_000046.1:p.Asp98Gly
XM_005247685.1:c.416A>G XP_005247742.1:p.Asp139Gly
NM_000055.3:c.293A>G NP_000046.1:p.Asp98Gly
NR_137635.1:n.159+6573A>G
NR_137636.1:n.460A>G
NM_000055.4:c.293A>G MANE Select NP_000046.1:p.Asp98Gly
NR_137635.2:n.110+6573A>G
NR_137636.2:n.411A>G