Canonical Allele Identifier: CA1417760890

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830863A= , CM000665.2:g.165830863A=	GRCh38
NC_000003.11:g.165548651A= , CM000665.1:g.165548651A=	GRCh37
NC_000003.10:g.167031345A=	NCBI36
NG_009031.1:g.11603T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.171T= MANE Select	ENSP00000264381.3:p.Leu57=
ENST00000264381.7:c.171T=	ENSP00000264381.3:p.Leu57=
ENST00000479451.5:c.107+6451T=	ENSP00000418325.1:n.107+6451T=
ENST00000482958.1:c.171T=	ENSP00000419804.1:p.Leu57=
ENST00000488954.1:c.107+6451T=	ENSP00000418504.1:n.107+6451T=
ENST00000497011.5:c.171T=	ENSP00000419505.1:p.Leu57=
NM_000055.2:c.171T=	NP_000046.1:p.Leu57=
XM_005247685.1:c.294T=	XP_005247742.1:p.Leu98=
NM_000055.3:c.171T=	NP_000046.1:p.Leu57=
NR_137635.1:n.159+6451T=
NR_137636.1:n.338T=
NM_000055.4:c.171T= MANE Select	NP_000046.1:p.Leu57=
NR_137635.2:n.110+6451T=
NR_137636.2:n.289T=