Canonical Allele Identifier: CA1417711734

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786275C= , CM000665.2:g.165786275C=	GRCh38
NC_000003.11:g.165504063C= , CM000665.1:g.165504063C=	GRCh37
NC_000003.10:g.166986757C=	NCBI36
NG_009031.1:g.56191G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1554G= MANE Select	ENSP00000264381.3:p.Trp518=
ENST00000264381.7:c.1554G=	ENSP00000264381.3:p.Trp518=
ENST00000479451.5:c.144G=	ENSP00000418325.1:p.Trp48=
ENST00000482958.1:c.*60G=	ENSP00000419804.1:n.*60G=
ENST00000488954.1:c.144G=	ENSP00000418504.1:p.Trp48=
ENST00000497011.5:c.1554G=	ENSP00000419505.1:p.Trp518=
NM_000055.2:c.1554G=	NP_000046.1:p.Trp518=
XM_005247685.1:c.1677G=	XP_005247742.1:p.Trp559=
NM_000055.3:c.1554G=	NP_000046.1:p.Trp518=
NR_137635.1:n.196G=
NR_137636.1:n.1721G=
NM_000055.4:c.1554G= MANE Select	NP_000046.1:p.Trp518=
NR_137635.2:n.147G=
NR_137636.2:n.1672G=