Canonical Allele Identifier: CA3108891248
Community Standard Title: NM_000055.4(BCHE):c.947T= (p.Val316=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830087A= , CM000665.2:g.165830087A= GRCh38
NC_000003.11:g.165547875A= , CM000665.1:g.165547875A= GRCh37
NC_000003.10:g.167030569A= NCBI36
NG_009031.1:g.12379T=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.947T= MANE Select NP_000046.1:p.Val316=
ENST00000264381.8:c.947T= MANE Select ENSP00000264381.3:p.Val316=
NM_000055.2:c.947T= NP_000046.1:p.Val316=
NM_000055.3:c.947T= NP_000046.1:p.Val316=
NR_137635.1:n.159+7227T=
NR_137635.2:n.110+7227T=
NR_137636.1:n.1114T=
NR_137636.2:n.1065T=
ENST00000264381.7:c.947T= ENSP00000264381.3:p.Val316=
ENST00000479451.5:c.107+7227T= ENSP00000418325.1:n.107+7227T=
ENST00000482958.1:c.947T= ENSP00000419804.1:p.Val316=
ENST00000488954.1:c.107+7227T= ENSP00000418504.1:n.107+7227T=
ENST00000497011.5:c.947T= ENSP00000419505.1:p.Val316=
XM_005247685.1:c.1070T= XP_005247742.1:p.Val357=