Canonical Allele Identifier: CA1417711691
Community Standard Title: NM_000055.4(BCHE):c.1576C= (p.Gln526=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165786253G= , CM000665.2:g.165786253G= GRCh38
NC_000003.11:g.165504041G= , CM000665.1:g.165504041G= GRCh37
NC_000003.10:g.166986735G= NCBI36
NG_009031.1:g.56213C=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1576C= MANE Select NP_000046.1:p.Gln526=
ENST00000264381.8:c.1576C= MANE Select ENSP00000264381.3:p.Gln526=
NM_000055.2:c.1576C= NP_000046.1:p.Gln526=
NM_000055.3:c.1576C= NP_000046.1:p.Gln526=
NR_137635.1:n.218C=
NR_137635.2:n.169C=
NR_137636.1:n.1743C=
NR_137636.2:n.1694C=
ENST00000264381.7:c.1576C= ENSP00000264381.3:p.Gln526=
ENST00000479451.5:c.166C= ENSP00000418325.1:p.Gln56=
ENST00000482958.1:c.*82C= ENSP00000419804.1:n.*82C=
ENST00000488954.1:c.166C= ENSP00000418504.1:p.Gln56=
ENST00000497011.5:c.1576C= ENSP00000419505.1:p.Gln526=
XM_005247685.1:c.1699C= XP_005247742.1:p.Gln567=