Canonical Allele Identifier: CA2692513

Gene: BCHE

Linked Data

• ClinVar Variation Id: 344097
• ClinVar RCV Id: RCV000371428 ; RCV003333978
• dbSNP Id: rs201820739
• ExAC: 3:165548394 C / T
• gnomAD v2: 3-165548394-C-T
• gnomAD v3: 3-165830606-C-T
• gnomAD v4: 3-165830606-C-T
• MyVariant Identifiers: chr3:g.165548394C>T (hg19) ; chr3:g.165830606C>T (hg38)
• PubMed: PMID:9110359 ; PMID:11575530 ; PMID:12881446 ; PMID:18075469 ; PMID:18165570 ; PMID:18555211 ; PMID:25448037

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830606C>T , CM000665.2:g.165830606C>T	GRCh38
NC_000003.11:g.165548394C>T , CM000665.1:g.165548394C>T	GRCh37
NC_000003.10:g.167031088C>T	NCBI36
NG_009031.1:g.11860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.428G>A MANE Select	ENSP00000264381.3:p.Gly143Asp
ENST00000264381.7:c.428G>A	ENSP00000264381.3:p.Gly143Asp
ENST00000479451.5:c.107+6708G>A	ENSP00000418325.1:n.107+6708G>A
ENST00000482958.1:c.428G>A	ENSP00000419804.1:p.Gly143Asp
ENST00000488954.1:c.107+6708G>A	ENSP00000418504.1:n.107+6708G>A
ENST00000497011.5:c.428G>A	ENSP00000419505.1:p.Gly143Asp
NM_000055.2:c.428G>A	NP_000046.1:p.Gly143Asp
XM_005247685.1:c.551G>A	XP_005247742.1:p.Gly184Asp
NM_000055.3:c.428G>A	NP_000046.1:p.Gly143Asp
NR_137635.1:n.159+6708G>A
NR_137636.1:n.595G>A
NM_000055.4:c.428G>A MANE Select	NP_000046.1:p.Gly143Asp
NR_137635.2:n.110+6708G>A
NR_137636.2:n.546G>A