Canonical Allele Identifier: CA355111604
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830027T>A , CM000665.2:g.165830027T>A GRCh38
NC_000003.11:g.165547815T>A , CM000665.1:g.165547815T>A GRCh37
NC_000003.10:g.167030509T>A NCBI36
NG_009031.1:g.12439A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1007A>T MANE Select ENSP00000264381.3:p.Glu336Val
ENST00000264381.7:c.1007A>T ENSP00000264381.3:p.Glu336Val
ENST00000479451.5:c.107+7287A>T ENSP00000418325.1:n.107+7287A>T
ENST00000482958.1:c.1007A>T ENSP00000419804.1:p.Glu336Val
ENST00000488954.1:c.107+7287A>T ENSP00000418504.1:n.107+7287A>T
ENST00000497011.5:c.1007A>T ENSP00000419505.1:p.Glu336Val
NM_000055.2:c.1007A>T NP_000046.1:p.Glu336Val
XM_005247685.1:c.1130A>T XP_005247742.1:p.Glu377Val
NM_000055.3:c.1007A>T NP_000046.1:p.Glu336Val
NR_137635.1:n.159+7287A>T
NR_137636.1:n.1174A>T
NM_000055.4:c.1007A>T MANE Select NP_000046.1:p.Glu336Val
NR_137635.2:n.110+7287A>T
NR_137636.2:n.1125A>T