Canonical Allele Identifier: CA355111822
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830130G>C , CM000665.2:g.165830130G>C GRCh38
NC_000003.11:g.165547918G>C , CM000665.1:g.165547918G>C GRCh37
NC_000003.10:g.167030612G>C NCBI36
NG_009031.1:g.12336C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.904C>G MANE Select ENSP00000264381.3:p.Leu302Val
ENST00000264381.7:c.904C>G ENSP00000264381.3:p.Leu302Val
ENST00000479451.5:n.107+7184C>G ENSP00000418325.1:n.107+7184C>G
ENST00000482958.1:c.904C>G ENSP00000419804.1:p.Leu302Val
ENST00000488954.1:n.107+7184C>G ENSP00000418504.1:n.107+7184C>G
ENST00000497011.5:c.904C>G ENSP00000419505.1:p.Leu302Val
NM_000055.2:c.904C>G NP_000046.1:p.Leu302Val
XM_005247685.1:c.1027C>G XP_005247742.1:p.Leu343Val
NM_000055.3:c.904C>G NP_000046.1:p.Leu302Val
NR_137635.1:n.159+7184C>G
NR_137636.1:n.1071C>G
NM_000055.4:c.904C>G MANE Select NP_000046.1:p.Leu302Val
NR_137635.2:n.110+7184C>G
NR_137636.2:n.1022C>G