Canonical Allele Identifier: CA87410385

Gene: BCHE

Linked Data

• dbSNP Id: rs529294559
• MyVariant Identifiers: chr3:g.165548822A>C (hg19) ; chr3:g.165831034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831034A>C , CM000665.2:g.165831034A>C	GRCh38
NC_000003.11:g.165548822A>C , CM000665.1:g.165548822A>C	GRCh37
NC_000003.10:g.167031516A>C	NCBI36
NG_009031.1:g.11432T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-1T>G MANE Select	ENSP00000264381.3:n.-1T>G
ENST00000264381.7:c.-1T>G	ENSP00000264381.3:n.-1T>G
ENST00000479451.5:c.107+6280T>G	ENSP00000418325.1:n.107+6280T>G
ENST00000482958.1:c.-1T>G	ENSP00000419804.1:n.-1T>G
ENST00000488954.1:c.107+6280T>G	ENSP00000418504.1:n.107+6280T>G
ENST00000497011.5:c.-1T>G	ENSP00000419505.1:n.-1T>G
NM_000055.2:c.-1T>G	NP_000046.1:n.-1T>G
XM_005247685.1:c.123T>G	XP_005247742.1:p.Asn41Lys
NM_000055.3:c.-1T>G	NP_000046.1:n.-1T>G
NR_137635.1:n.159+6280T>G
NR_137636.1:n.167T>G
NM_000055.4:c.-1T>G MANE Select	NP_000046.1:n.-1T>G
NR_137635.2:n.110+6280T>G
NR_137636.2:n.118T>G