Canonical Allele Identifier: CA1417760005
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830112C= , CM000665.2:g.165830112C= GRCh38
NC_000003.11:g.165547900C= , CM000665.1:g.165547900C= GRCh37
NC_000003.10:g.167030594C= NCBI36
NG_009031.1:g.12354G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.922G= MANE Select ENSP00000264381.3:p.Val308=
ENST00000264381.7:c.922G= ENSP00000264381.3:p.Val308=
ENST00000479451.5:c.107+7202G= ENSP00000418325.1:n.107+7202G=
ENST00000482958.1:c.922G= ENSP00000419804.1:p.Val308=
ENST00000488954.1:c.107+7202G= ENSP00000418504.1:n.107+7202G=
ENST00000497011.5:c.922G= ENSP00000419505.1:p.Val308=
NM_000055.2:c.922G= NP_000046.1:p.Val308=
XM_005247685.1:c.1045G= XP_005247742.1:p.Val349=
NM_000055.3:c.922G= NP_000046.1:p.Val308=
NR_137635.1:n.159+7202G=
NR_137636.1:n.1089G=
NM_000055.4:c.922G= MANE Select NP_000046.1:p.Val308=
NR_137635.2:n.110+7202G=
NR_137636.2:n.1040G=