Canonical Allele Identifier: CA1055946134

Gene: BCHE

Linked Data

• dbSNP Id: rs1712954190
• gnomAD v3: 3-165786429-G-T
• gnomAD v4: 3-165786429-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786429G>T , CM000665.2:g.165786429G>T	GRCh38
NC_000003.11:g.165504217G>T , CM000665.1:g.165504217G>T	GRCh37
NC_000003.10:g.166986911G>T	NCBI36
NG_009031.1:g.56037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-118C>A MANE Select	ENSP00000264381.3:n.1518-118C>A
ENST00000264381.7:c.1518-118C>A	ENSP00000264381.3:n.1518-118C>A
ENST00000479451.5:c.108-118C>A	ENSP00000418325.1:n.108-118C>A
ENST00000482958.1:c.*24-118C>A	ENSP00000419804.1:n.*24-118C>A
ENST00000488954.1:c.108-118C>A	ENSP00000418504.1:n.108-118C>A
ENST00000497011.5:c.1518-118C>A	ENSP00000419505.1:n.1518-118C>A
NM_000055.2:c.1518-118C>A	NP_000046.1:n.1518-118C>A
XM_005247685.1:c.1641-118C>A	XP_005247742.1:n.1641-118C>A
NM_000055.3:c.1518-118C>A	NP_000046.1:n.1518-118C>A
NR_137635.1:n.160-118C>A
NR_137636.1:n.1685-118C>A
NM_000055.4:c.1518-118C>A MANE Select	NP_000046.1:n.1518-118C>A
NR_137635.2:n.111-118C>A
NR_137636.2:n.1636-118C>A