Canonical Allele Identifier: CA355114200

Gene: BCHE

Linked Data

• dbSNP Id: rs1432076865
• gnomAD v2: 3-165491281-T-G
• gnomAD v3: 3-165773493-T-G
• gnomAD v4: 3-165773493-T-G
• MyVariant Identifiers: chr3:g.165491281T>G (hg19) ; chr3:g.165773493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773493T>G , CM000665.2:g.165773493T>G	GRCh38
NC_000003.11:g.165491281T>G , CM000665.1:g.165491281T>G	GRCh37
NC_000003.10:g.166973975T>G	NCBI36
NG_009031.1:g.68973A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1698A>C MANE Select	ENSP00000264381.3:p.Glu566Asp
ENST00000264381.7:c.1698A>C	ENSP00000264381.3:p.Glu566Asp
ENST00000479451.5:c.288A>C	ENSP00000418325.1:p.Glu96Asp
ENST00000482958.1:c.*204A>C	ENSP00000419804.1:n.*204A>C
ENST00000497011.5:c.*88A>C	ENSP00000419505.1:n.*88A>C
NM_000055.2:c.1698A>C	NP_000046.1:p.Glu566Asp
XM_005247685.1:c.1821A>C	XP_005247742.1:p.Glu607Asp
NM_000055.3:c.1698A>C	NP_000046.1:p.Glu566Asp
NR_137635.1:n.340A>C
NR_137636.1:n.1944A>C
NM_000055.4:c.1698A>C MANE Select	NP_000046.1:p.Glu566Asp
NR_137635.2:n.291A>C
NR_137636.2:n.1895A>C