Canonical Allele Identifier: CA1417759943

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830054A= , CM000665.2:g.165830054A=	GRCh38
NC_000003.11:g.165547842A= , CM000665.1:g.165547842A=	GRCh37
NC_000003.10:g.167030536A=	NCBI36
NG_009031.1:g.12412T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.980T= MANE Select	NP_000046.1:p.Leu327=
ENST00000264381.8:c.980T= MANE Select	ENSP00000264381.3:p.Leu327=
NM_000055.2:c.980T=	NP_000046.1:p.Leu327=
NM_000055.3:c.980T=	NP_000046.1:p.Leu327=
NR_137635.1:n.159+7260T=
NR_137635.2:n.110+7260T=
NR_137636.1:n.1147T=
NR_137636.2:n.1098T=
ENST00000264381.7:c.980T=	ENSP00000264381.3:p.Leu327=
ENST00000479451.5:c.107+7260T=	ENSP00000418325.1:n.107+7260T=
ENST00000482958.1:c.980T=	ENSP00000419804.1:p.Leu327=
ENST00000488954.1:c.107+7260T=	ENSP00000418504.1:n.107+7260T=
ENST00000497011.5:c.980T=	ENSP00000419505.1:p.Leu327=
XM_005247685.1:c.1103T=	XP_005247742.1:p.Leu368=