Canonical Allele Identifier: CA1417711629

Gene: BCHE

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1627C= MANE Select	ENSP00000264381.3:p.Arg543=
ENST00000264381.7:c.1627C=	ENSP00000264381.3:p.Arg543=
ENST00000479451.5:c.217C=	ENSP00000418325.1:p.Arg73=
ENST00000482958.1:c.*133C=	ENSP00000419804.1:n.*133C=
ENST00000488954.1:c.217C=	ENSP00000418504.1:p.Arg73=
ENST00000497011.5:c.1627C=	ENSP00000419505.1:p.Arg543=
NM_000055.2:c.1627C=	NP_000046.1:p.Arg543=
XM_005247685.1:c.1750C=	XP_005247742.1:p.Arg584=
NM_000055.3:c.1627C=	NP_000046.1:p.Arg543=
NR_137635.1:n.269C=
NR_137636.1:n.1794C=
NM_000055.4:c.1627C= MANE Select	NP_000046.1:p.Arg543=
NR_137635.2:n.220C=
NR_137636.2:n.1745C=