Canonical Allele Identifier: CA1417759532

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829784A= , CM000665.2:g.165829784A=	GRCh38
NC_000003.11:g.165547572A= , CM000665.1:g.165547572A=	GRCh37
NC_000003.10:g.167030266A=	NCBI36
NG_009031.1:g.12682T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1250T= MANE Select	ENSP00000264381.3:p.Leu417=
ENST00000264381.7:c.1250T=	ENSP00000264381.3:p.Leu417=
ENST00000479451.5:c.107+7530T=	ENSP00000418325.1:n.107+7530T=
ENST00000482958.1:c.1250T=	ENSP00000419804.1:p.Leu417=
ENST00000488954.1:c.107+7530T=	ENSP00000418504.1:n.107+7530T=
ENST00000497011.5:c.1250T=	ENSP00000419505.1:p.Leu417=
NM_000055.2:c.1250T=	NP_000046.1:p.Leu417=
XM_005247685.1:c.1373T=	XP_005247742.1:p.Leu458=
NM_000055.3:c.1250T=	NP_000046.1:p.Leu417=
NR_137635.1:n.159+7530T=
NR_137636.1:n.1417T=
NM_000055.4:c.1250T= MANE Select	NP_000046.1:p.Leu417=
NR_137635.2:n.110+7530T=
NR_137636.2:n.1368T=