Canonical Allele Identifier: CA1417711665

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786237A= , CM000665.2:g.165786237A=	GRCh38
NC_000003.11:g.165504025A= , CM000665.1:g.165504025A=	GRCh37
NC_000003.10:g.166986719A=	NCBI36
NG_009031.1:g.56229T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1592T= MANE Select	ENSP00000264381.3:p.Leu531=
ENST00000264381.7:c.1592T=	ENSP00000264381.3:p.Leu531=
ENST00000479451.5:c.182T=	ENSP00000418325.1:p.Leu61=
ENST00000482958.1:c.*98T=	ENSP00000419804.1:n.*98T=
ENST00000488954.1:c.182T=	ENSP00000418504.1:p.Leu61=
ENST00000497011.5:c.1592T=	ENSP00000419505.1:p.Leu531=
NM_000055.2:c.1592T=	NP_000046.1:p.Leu531=
XM_005247685.1:c.1715T=	XP_005247742.1:p.Leu572=
NM_000055.3:c.1592T=	NP_000046.1:p.Leu531=
NR_137635.1:n.234T=
NR_137636.1:n.1759T=
NM_000055.4:c.1592T= MANE Select	NP_000046.1:p.Leu531=
NR_137635.2:n.185T=
NR_137636.2:n.1710T=