Canonical Allele Identifier: CA355111607
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830028C>T , CM000665.2:g.165830028C>T GRCh38
NC_000003.11:g.165547816C>T , CM000665.1:g.165547816C>T GRCh37
NC_000003.10:g.167030510C>T NCBI36
NG_009031.1:g.12438G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1006G>A MANE Select ENSP00000264381.3:p.Glu336Lys
ENST00000264381.7:c.1006G>A ENSP00000264381.3:p.Glu336Lys
ENST00000479451.5:c.107+7286G>A ENSP00000418325.1:n.107+7286G>A
ENST00000482958.1:c.1006G>A ENSP00000419804.1:p.Glu336Lys
ENST00000488954.1:c.107+7286G>A ENSP00000418504.1:n.107+7286G>A
ENST00000497011.5:c.1006G>A ENSP00000419505.1:p.Glu336Lys
NM_000055.2:c.1006G>A NP_000046.1:p.Glu336Lys
XM_005247685.1:c.1129G>A XP_005247742.1:p.Glu377Lys
NM_000055.3:c.1006G>A NP_000046.1:p.Glu336Lys
NR_137635.1:n.159+7286G>A
NR_137636.1:n.1173G>A
NM_000055.4:c.1006G>A MANE Select NP_000046.1:p.Glu336Lys
NR_137635.2:n.110+7286G>A
NR_137636.2:n.1124G>A