Canonical Allele Identifier: CA355110218

Gene: BCHE

Linked Data

• dbSNP Id: rs2108202453
• MyVariant Identifiers: chr3:g.165503992A>T (hg19) ; chr3:g.165786204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786204A>T , CM000665.2:g.165786204A>T	GRCh38
NC_000003.11:g.165503992A>T , CM000665.1:g.165503992A>T	GRCh37
NC_000003.10:g.166986686A>T	NCBI36
NG_009031.1:g.56262T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1625T>A MANE Select	ENSP00000264381.3:p.Leu542Gln
ENST00000264381.7:c.1625T>A	ENSP00000264381.3:p.Leu542Gln
ENST00000479451.5:c.215T>A	ENSP00000418325.1:p.Leu72Gln
ENST00000482958.1:c.*131T>A	ENSP00000419804.1:n.*131T>A
ENST00000488954.1:c.215T>A	ENSP00000418504.1:p.Leu72Gln
ENST00000497011.5:c.1625T>A	ENSP00000419505.1:p.Leu542Gln
NM_000055.2:c.1625T>A	NP_000046.1:p.Leu542Gln
XM_005247685.1:c.1748T>A	XP_005247742.1:p.Leu583Gln
NM_000055.3:c.1625T>A	NP_000046.1:p.Leu542Gln
NR_137635.1:n.267T>A
NR_137636.1:n.1792T>A
NM_000055.4:c.1625T>A MANE Select	NP_000046.1:p.Leu542Gln
NR_137635.2:n.218T>A
NR_137636.2:n.1743T>A