Canonical Allele Identifier: CA1417759904
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830032T= , CM000665.2:g.165830032T= GRCh38
NC_000003.11:g.165547820T= , CM000665.1:g.165547820T= GRCh37
NC_000003.10:g.167030514T= NCBI36
NG_009031.1:g.12434A=

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1002A= MANE Select ENSP00000264381.3:p.Leu334=
ENST00000264381.7:c.1002A= ENSP00000264381.3:p.Leu334=
ENST00000479451.5:c.107+7282A= ENSP00000418325.1:n.107+7282A=
ENST00000482958.1:c.1002A= ENSP00000419804.1:p.Leu334=
ENST00000488954.1:c.107+7282A= ENSP00000418504.1:n.107+7282A=
ENST00000497011.5:c.1002A= ENSP00000419505.1:p.Leu334=
NM_000055.2:c.1002A= NP_000046.1:p.Leu334=
XM_005247685.1:c.1125A= XP_005247742.1:p.Leu375=
NM_000055.3:c.1002A= NP_000046.1:p.Leu334=
NR_137635.1:n.159+7282A=
NR_137636.1:n.1169A=
NM_000055.4:c.1002A= MANE Select NP_000046.1:p.Leu334=
NR_137635.2:n.110+7282A=
NR_137636.2:n.1120A=