Canonical Allele Identifier: CA2692265

Gene: BCHE

Linked Data

• dbSNP Id: rs752132070
• ExAC: 3:165504092 T / C
• gnomAD v2: 3-165504092-T-C
• gnomAD v4: 3-165786304-T-C
• MyVariant Identifiers: chr3:g.165504092T>C (hg19) ; chr3:g.165786304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786304T>C , CM000665.2:g.165786304T>C	GRCh38
NC_000003.11:g.165504092T>C , CM000665.1:g.165504092T>C	GRCh37
NC_000003.10:g.166986786T>C	NCBI36
NG_009031.1:g.56162A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1525A>G MANE Select	ENSP00000264381.3:p.Asn509Asp
ENST00000264381.7:c.1525A>G	ENSP00000264381.3:p.Asn509Asp
ENST00000479451.5:c.115A>G	ENSP00000418325.1:p.Asn39Asp
ENST00000482958.1:c.*31A>G	ENSP00000419804.1:n.*31A>G
ENST00000488954.1:c.115A>G	ENSP00000418504.1:p.Asn39Asp
ENST00000497011.5:c.1525A>G	ENSP00000419505.1:p.Asn509Asp
NM_000055.2:c.1525A>G	NP_000046.1:p.Asn509Asp
XM_005247685.1:c.1648A>G	XP_005247742.1:p.Asn550Asp
NM_000055.3:c.1525A>G	NP_000046.1:p.Asn509Asp
NR_137635.1:n.167A>G
NR_137636.1:n.1692A>G
NM_000055.4:c.1525A>G MANE Select	NP_000046.1:p.Asn509Asp
NR_137635.2:n.118A>G
NR_137636.2:n.1643A>G