Canonical Allele Identifier: CA122967

Gene: BCHE

Linked Data

• ClinVar Variation Id: 13220
• ClinVar RCV Id: RCV000014120 ; RCV000309118 ; RCV001804729 ; RCV002274899
• dbSNP Id: rs1803274
• ExAC: 3:165491280 C / T
• gnomAD v2: 3-165491280-C-T
• gnomAD v3: 3-165773492-C-T
• gnomAD v4: 3-165773492-C-T
• MyVariant Identifiers: chr3:g.165491280C>T (hg19) ; chr3:g.165773492C>T (hg38)
• PubMed: PMID:416211 ; PMID:1349196 ; PMID:1570838 ; PMID:3169798 ; PMID:6716425 ; PMID:9302273 ; PMID:10190327 ; PMID:10699053 ; PMID:12387584 ; PMID:12881446 ; PMID:23400986

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773492C>T , CM000665.2:g.165773492C>T	GRCh38
NC_000003.11:g.165491280C>T , CM000665.1:g.165491280C>T	GRCh37
NC_000003.10:g.166973974C>T	NCBI36
NG_009031.1:g.68974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1699G>A MANE Select	ENSP00000264381.3:p.Ala567Thr
ENST00000264381.7:c.1699G>A	ENSP00000264381.3:p.Ala567Thr
ENST00000479451.5:c.289G>A	ENSP00000418325.1:p.Ala97Thr
ENST00000482958.1:c.*205G>A	ENSP00000419804.1:n.*205G>A
ENST00000497011.5:c.*89G>A	ENSP00000419505.1:n.*89G>A
NM_000055.2:c.1699G>A	NP_000046.1:p.Ala567Thr
XM_005247685.1:c.1822G>A	XP_005247742.1:p.Ala608Thr
NM_000055.3:c.1699G>A	NP_000046.1:p.Ala567Thr
NR_137635.1:n.341G>A
NR_137636.1:n.1945G>A
NM_000055.4:c.1699G>A MANE Select	NP_000046.1:p.Ala567Thr
NR_137635.2:n.292G>A
NR_137636.2:n.1896G>A