Canonical Allele Identifier: CA1055962729

Gene: BCHE

Linked Data

• dbSNP Id: rs1714871592
• gnomAD v3: 3-165829686-C-CA
• gnomAD v4: 3-165829686-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829690dup , CM000665.2:g.165829690dup	GRCh38
NC_000003.11:g.165547478dup , CM000665.1:g.165547478dup	GRCh37
NC_000003.10:g.167030172dup	NCBI36
NG_009031.1:g.12779dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1347dup MANE Select	ENSP00000264381.3:p.Glu450Ter
ENST00000264381.7:c.1347dup	ENSP00000264381.3:p.Glu450Ter
ENST00000479451.5:c.107+7627dup	ENSP00000418325.1:n.107+7627dup
ENST00000482958.1:c.1347dup	ENSP00000419804.1:p.Glu450Ter
ENST00000488954.1:c.107+7627dup	ENSP00000418504.1:n.107+7627dup
ENST00000497011.5:c.1347dup	ENSP00000419505.1:p.Glu450Ter
NM_000055.2:c.1347dup	NP_000046.1:p.Glu450Ter
XM_005247685.1:c.1470dup	XP_005247742.1:p.Glu491Ter
NM_000055.3:c.1347dup	NP_000046.1:p.Glu450Ter
NR_137635.1:n.159+7627dup
NR_137636.1:n.1514dup
NM_000055.4:c.1347dup MANE Select	NP_000046.1:p.Glu450Ter
NR_137635.2:n.110+7627dup
NR_137636.2:n.1465dup