Canonical Allele Identifier: CA355110216

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165503990G>T (hg19) ; chr3:g.165786202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786202G>T , CM000665.2:g.165786202G>T	GRCh38
NC_000003.11:g.165503990G>T , CM000665.1:g.165503990G>T	GRCh37
NC_000003.10:g.166986684G>T	NCBI36
NG_009031.1:g.56264C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1627C>A MANE Select	ENSP00000264381.3:p.Arg543Ser
ENST00000264381.7:c.1627C>A	ENSP00000264381.3:p.Arg543Ser
ENST00000479451.5:c.217C>A	ENSP00000418325.1:p.Arg73Ser
ENST00000482958.1:c.*133C>A	ENSP00000419804.1:n.*133C>A
ENST00000488954.1:c.217C>A	ENSP00000418504.1:p.Arg73Ser
ENST00000497011.5:c.1627C>A	ENSP00000419505.1:p.Arg543Ser
NM_000055.2:c.1627C>A	NP_000046.1:p.Arg543Ser
XM_005247685.1:c.1750C>A	XP_005247742.1:p.Arg584Ser
NM_000055.3:c.1627C>A	NP_000046.1:p.Arg543Ser
NR_137635.1:n.269C>A
NR_137636.1:n.1794C>A
NM_000055.4:c.1627C>A MANE Select	NP_000046.1:p.Arg543Ser
NR_137635.2:n.220C>A
NR_137636.2:n.1745C>A