Canonical Allele Identifier: CA2692210

Gene: BCHE

Linked Data

• dbSNP Id: rs772072985
• ExAC: 3:165491304 A / G
• gnomAD v2: 3-165491304-A-G
• gnomAD v3: 3-165773516-A-G
• gnomAD v4: 3-165773516-A-G
• MyVariant Identifiers: chr3:g.165491304A>G (hg19) ; chr3:g.165773516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773516A>G , CM000665.2:g.165773516A>G	GRCh38
NC_000003.11:g.165491304A>G , CM000665.1:g.165491304A>G	GRCh37
NC_000003.10:g.166973998A>G	NCBI36
NG_009031.1:g.68950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1685-10T>C MANE Select	ENSP00000264381.3:n.1685-10T>C
ENST00000264381.7:c.1685-10T>C	ENSP00000264381.3:n.1685-10T>C
ENST00000479451.5:c.275-10T>C	ENSP00000418325.1:n.275-10T>C
ENST00000482958.1:c.*191-10T>C	ENSP00000419804.1:n.*191-10T>C
ENST00000497011.5:c.*75-10T>C	ENSP00000419505.1:n.*75-10T>C
NM_000055.2:c.1685-10T>C	NP_000046.1:n.1685-10T>C
XM_005247685.1:c.1808-10T>C	XP_005247742.1:n.1808-10T>C
NM_000055.3:c.1685-10T>C	NP_000046.1:n.1685-10T>C
NR_137635.1:n.327-10T>C
NR_137636.1:n.1931-10T>C
NM_000055.4:c.1685-10T>C MANE Select	NP_000046.1:n.1685-10T>C
NR_137635.2:n.278-10T>C
NR_137636.2:n.1882-10T>C