Canonical Allele Identifier: CA1417711535

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786161T= , CM000665.2:g.165786161T=	GRCh38
NC_000003.11:g.165503949T= , CM000665.1:g.165503949T=	GRCh37
NC_000003.10:g.166986643T=	NCBI36
NG_009031.1:g.56305A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1668A= MANE Select	ENSP00000264381.3:p.Lys556=
ENST00000264381.7:c.1668A=	ENSP00000264381.3:p.Lys556=
ENST00000479451.5:c.258A=	ENSP00000418325.1:p.Lys86=
ENST00000482958.1:c.*174A=	ENSP00000419804.1:n.*174A=
ENST00000488954.1:c.258A=	ENSP00000418504.1:p.Lys86=
ENST00000497011.5:c.1668A=	ENSP00000419505.1:p.Lys556=
NM_000055.2:c.1668A=	NP_000046.1:p.Lys556=
XM_005247685.1:c.1791A=	XP_005247742.1:p.Lys597=
NM_000055.3:c.1668A=	NP_000046.1:p.Lys556=
NR_137635.1:n.310A=
NR_137636.1:n.1835A=
NM_000055.4:c.1668A= MANE Select	NP_000046.1:p.Lys556=
NR_137635.2:n.261A=
NR_137636.2:n.1786A=