Canonical Allele Identifier: CA436818482

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165503993G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786205G>A , CM000665.2:g.165786205G>A	GRCh38
NC_000003.11:g.165503993G>A , CM000665.1:g.165503993G>A	GRCh37
NC_000003.10:g.166986687G>A	NCBI36
NG_009031.1:g.56261C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1624C>T MANE Select	ENSP00000264381.3:p.Leu542=
ENST00000264381.7:c.1624C>T	ENSP00000264381.3:p.Leu542=
ENST00000479451.5:c.214C>T	ENSP00000418325.1:p.Leu72=
ENST00000482958.1:c.*130C>T	ENSP00000419804.1:n.*130C>T
ENST00000488954.1:c.214C>T	ENSP00000418504.1:p.Leu72=
ENST00000497011.5:c.1624C>T	ENSP00000419505.1:p.Leu542=
NM_000055.2:c.1624C>T	NP_000046.1:p.Leu542=
XM_005247685.1:c.1747C>T	XP_005247742.1:p.Leu583=
NM_000055.3:c.1624C>T	NP_000046.1:p.Leu542=
NR_137635.1:n.266C>T
NR_137636.1:n.1791C>T
NM_000055.4:c.1624C>T MANE Select	NP_000046.1:p.Leu542=
NR_137635.2:n.217C>T
NR_137636.2:n.1742C>T