Canonical Allele Identifier: CA355111824
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830132A>C , CM000665.2:g.165830132A>C GRCh38
NC_000003.11:g.165547920A>C , CM000665.1:g.165547920A>C GRCh37
NC_000003.10:g.167030614A>C NCBI36
NG_009031.1:g.12334T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.902T>G MANE Select ENSP00000264381.3:p.Leu301Arg
ENST00000264381.7:c.902T>G ENSP00000264381.3:p.Leu301Arg
ENST00000479451.5:n.107+7182T>G ENSP00000418325.1:n.107+7182T>G
ENST00000482958.1:c.902T>G ENSP00000419804.1:p.Leu301Arg
ENST00000488954.1:n.107+7182T>G ENSP00000418504.1:n.107+7182T>G
ENST00000497011.5:c.902T>G ENSP00000419505.1:p.Leu301Arg
NM_000055.2:c.902T>G NP_000046.1:p.Leu301Arg
XM_005247685.1:c.1025T>G XP_005247742.1:p.Leu342Arg
NM_000055.3:c.902T>G NP_000046.1:p.Leu301Arg
NR_137635.1:n.159+7182T>G
NR_137636.1:n.1069T>G
NM_000055.4:c.902T>G MANE Select NP_000046.1:p.Leu301Arg
NR_137635.2:n.110+7182T>G
NR_137636.2:n.1020T>G