Canonical Allele Identifier: CA122963

Gene: BCHE

Linked Data

• ClinVar Variation Id: 13215
• ClinVar RCV Id: RCV000014102 ; RCV000277104 ; RCV001092437 ; RCV003415696
• dbSNP Id: rs1799807
• ExAC: 3:165548529 T / C
• gnomAD v2: 3-165548529-T-C
• gnomAD v3: 3-165830741-T-C
• gnomAD v4: 3-165830741-T-C
• MyVariant Identifiers: chr3:g.165548529T>C (hg19) ; chr3:g.165830741T>C (hg38)
• PubMed: PMID:2013061 ; PMID:2915989 ; PMID:9047329 ; PMID:10446378 ; PMID:12881446 ; PMID:13437188 ; PMID:13479831 ; PMID:14404182 ; PMID:17166756 ; PMID:21228368 ; PMID:25448037

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:c.107+6573A>G	ENSP00000418325.1:n.107+6573A>G
ENST00000482958.1:c.293A>G	ENSP00000419804.1:p.Asp98Gly
ENST00000488954.1:c.107+6573A>G	ENSP00000418504.1:n.107+6573A>G
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