Canonical Allele Identifier: CA3108885747
Community Standard Title: NM_000055.4(BCHE):c.1483A= (p.Ile495=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829551T= , CM000665.2:g.165829551T= GRCh38
NC_000003.11:g.165547339T= , CM000665.1:g.165547339T= GRCh37
NC_000003.10:g.167030033T= NCBI36
NG_009031.1:g.12915A=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1483A= MANE Select NP_000046.1:p.Ile495=
ENST00000264381.8:c.1483A= MANE Select ENSP00000264381.3:p.Ile495=
NM_000055.2:c.1483A= NP_000046.1:p.Ile495=
NM_000055.3:c.1483A= NP_000046.1:p.Ile495=
NR_137635.1:n.159+7763A=
NR_137635.2:n.110+7763A=
NR_137636.1:n.1650A=
NR_137636.2:n.1601A=
ENST00000264381.7:c.1483A= ENSP00000264381.3:p.Ile495=
ENST00000479451.5:c.107+7763A= ENSP00000418325.1:n.107+7763A=
ENST00000482958.1:c.1483A= ENSP00000419804.1:p.Ile495=
ENST00000488954.1:c.107+7763A= ENSP00000418504.1:n.107+7763A=
ENST00000497011.5:c.1483A= ENSP00000419505.1:p.Ile495=
XM_005247685.1:c.1606A= XP_005247742.1:p.Ile536=