Canonical Allele Identifier: CA355111729
Gene: BCHE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830084T>C , CM000665.2:g.165830084T>C GRCh38
NC_000003.11:g.165547872T>C , CM000665.1:g.165547872T>C GRCh37
NC_000003.10:g.167030566T>C NCBI36
NG_009031.1:g.12382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.950A>G MANE Select ENSP00000264381.3:p.Asn317Ser
ENST00000264381.7:c.950A>G ENSP00000264381.3:p.Asn317Ser
ENST00000479451.5:c.107+7230A>G ENSP00000418325.1:n.107+7230A>G
ENST00000482958.1:c.950A>G ENSP00000419804.1:p.Asn317Ser
ENST00000488954.1:c.107+7230A>G ENSP00000418504.1:n.107+7230A>G
ENST00000497011.5:c.950A>G ENSP00000419505.1:p.Asn317Ser
NM_000055.2:c.950A>G NP_000046.1:p.Asn317Ser
XM_005247685.1:c.1073A>G XP_005247742.1:p.Asn358Ser
NM_000055.3:c.950A>G NP_000046.1:p.Asn317Ser
NR_137635.1:n.159+7230A>G
NR_137636.1:n.1117A>G
NM_000055.4:c.950A>G MANE Select NP_000046.1:p.Asn317Ser
NR_137635.2:n.110+7230A>G
NR_137636.2:n.1068A>G