Canonical Allele Identifier: CA355110586

Gene: BCHE

Linked Data

• COSMIC: COSM5891739
• MyVariant Identifiers: chr3:g.165547357C>T (hg19) ; chr3:g.165829569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829569C>T , CM000665.2:g.165829569C>T	GRCh38
NC_000003.11:g.165547357C>T , CM000665.1:g.165547357C>T	GRCh37
NC_000003.10:g.167030051C>T	NCBI36
NG_009031.1:g.12897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1465G>A MANE Select	ENSP00000264381.3:p.Glu489Lys
ENST00000264381.7:c.1465G>A	ENSP00000264381.3:p.Glu489Lys
ENST00000479451.5:c.107+7745G>A	ENSP00000418325.1:n.107+7745G>A
ENST00000482958.1:c.1465G>A	ENSP00000419804.1:p.Glu489Lys
ENST00000488954.1:c.107+7745G>A	ENSP00000418504.1:n.107+7745G>A
ENST00000497011.5:c.1465G>A	ENSP00000419505.1:p.Glu489Lys
NM_000055.2:c.1465G>A	NP_000046.1:p.Glu489Lys
XM_005247685.1:c.1588G>A	XP_005247742.1:p.Glu530Lys
NM_000055.3:c.1465G>A	NP_000046.1:p.Glu489Lys
NR_137635.1:n.159+7745G>A
NR_137636.1:n.1632G>A
NM_000055.4:c.1465G>A MANE Select	NP_000046.1:p.Glu489Lys
NR_137635.2:n.110+7745G>A
NR_137636.2:n.1583G>A