Canonical Allele Identifier: CA355110221

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165503993G>T (hg19) ; chr3:g.165786205G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1624C>A MANE Select	ENSP00000264381.3:p.Leu542Ile
ENST00000264381.7:c.1624C>A	ENSP00000264381.3:p.Leu542Ile
ENST00000479451.5:c.214C>A	ENSP00000418325.1:p.Leu72Ile
ENST00000482958.1:c.*130C>A	ENSP00000419804.1:n.*130C>A
ENST00000488954.1:c.214C>A	ENSP00000418504.1:p.Leu72Ile
ENST00000497011.5:c.1624C>A	ENSP00000419505.1:p.Leu542Ile
NM_000055.2:c.1624C>A	NP_000046.1:p.Leu542Ile
XM_005247685.1:c.1747C>A	XP_005247742.1:p.Leu583Ile
NM_000055.3:c.1624C>A	NP_000046.1:p.Leu542Ile
NR_137635.1:n.266C>A
NR_137636.1:n.1791C>A
NM_000055.4:c.1624C>A MANE Select	NP_000046.1:p.Leu542Ile
NR_137635.2:n.217C>A
NR_137636.2:n.1742C>A