Canonical Allele Identifier: CA355111600
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830025G>C , CM000665.2:g.165830025G>C GRCh38
NC_000003.11:g.165547813G>C , CM000665.1:g.165547813G>C GRCh37
NC_000003.10:g.167030507G>C NCBI36
NG_009031.1:g.12441C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1009C>G MANE Select ENSP00000264381.3:p.Leu337Val
ENST00000264381.7:c.1009C>G ENSP00000264381.3:p.Leu337Val
ENST00000479451.5:c.107+7289C>G ENSP00000418325.1:n.107+7289C>G
ENST00000482958.1:c.1009C>G ENSP00000419804.1:p.Leu337Val
ENST00000488954.1:c.107+7289C>G ENSP00000418504.1:n.107+7289C>G
ENST00000497011.5:c.1009C>G ENSP00000419505.1:p.Leu337Val
NM_000055.2:c.1009C>G NP_000046.1:p.Leu337Val
XM_005247685.1:c.1132C>G XP_005247742.1:p.Leu378Val
NM_000055.3:c.1009C>G NP_000046.1:p.Leu337Val
NR_137635.1:n.159+7289C>G
NR_137636.1:n.1176C>G
NM_000055.4:c.1009C>G MANE Select NP_000046.1:p.Leu337Val
NR_137635.2:n.110+7289C>G
NR_137636.2:n.1127C>G