Canonical Allele Identifier: CA355111844
Gene: BCHE HGNC NCBI

Linked Data

COSMIC: COSM4115005
MyVariant Identifiers: chr3:g.165547928T>G (hg19) chr3:g.165830140T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830140T>G , CM000665.2:g.165830140T>G GRCh38
NC_000003.11:g.165547928T>G , CM000665.1:g.165547928T>G GRCh37
NC_000003.10:g.167030622T>G NCBI36
NG_009031.1:g.12326A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.894A>C MANE Select ENSP00000264381.3:p.Gln298His
ENST00000264381.7:c.894A>C ENSP00000264381.3:p.Gln298His
ENST00000479451.5:c.107+7174A>C ENSP00000418325.1:n.107+7174A>C
ENST00000482958.1:c.894A>C ENSP00000419804.1:p.Gln298His
ENST00000488954.1:c.107+7174A>C ENSP00000418504.1:n.107+7174A>C
ENST00000497011.5:c.894A>C ENSP00000419505.1:p.Gln298His
NM_000055.2:c.894A>C NP_000046.1:p.Gln298His
XM_005247685.1:c.1017A>C XP_005247742.1:p.Gln339His
NM_000055.3:c.894A>C NP_000046.1:p.Gln298His
NR_137635.1:n.159+7174A>C
NR_137636.1:n.1061A>C
NM_000055.4:c.894A>C MANE Select NP_000046.1:p.Gln298His
NR_137635.2:n.110+7174A>C
NR_137636.2:n.1012A>C
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