Canonical Allele Identifier: CA2692206

Gene: BCHE

Linked Data

• dbSNP Id: rs778008893
• ExAC: 3:165491284 A / G
• gnomAD v2: 3-165491284-A-G
• gnomAD v4: 3-165773496-A-G
• MyVariant Identifiers: chr3:g.165491284A>G (hg19) ; chr3:g.165773496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773496A>G , CM000665.2:g.165773496A>G	GRCh38
NC_000003.11:g.165491284A>G , CM000665.1:g.165491284A>G	GRCh37
NC_000003.10:g.166973978A>G	NCBI36
NG_009031.1:g.68970T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1695T>C MANE Select	ENSP00000264381.3:p.Asp565=
ENST00000264381.7:c.1695T>C	ENSP00000264381.3:p.Asp565=
ENST00000479451.5:c.285T>C	ENSP00000418325.1:p.Asp95=
ENST00000482958.1:c.*201T>C	ENSP00000419804.1:n.*201T>C
ENST00000497011.5:c.*85T>C	ENSP00000419505.1:n.*85T>C
NM_000055.2:c.1695T>C	NP_000046.1:p.Asp565=
XM_005247685.1:c.1818T>C	XP_005247742.1:p.Asp606=
NM_000055.3:c.1695T>C	NP_000046.1:p.Asp565=
NR_137635.1:n.337T>C
NR_137636.1:n.1941T>C
NM_000055.4:c.1695T>C MANE Select	NP_000046.1:p.Asp565=
NR_137635.2:n.288T>C
NR_137636.2:n.1892T>C