Canonical Allele Identifier: CA1417758992
Community Standard Title: NM_000055.4(BCHE):c.1517+56C=
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829461G= , CM000665.2:g.165829461G= GRCh38
NC_000003.11:g.165547249G= , CM000665.1:g.165547249G= GRCh37
NC_000003.10:g.167029943G= NCBI36
NG_009031.1:g.13005C=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1517+56C= MANE Select NP_000046.1:n.1517+56C=
ENST00000264381.8:c.1517+56C= MANE Select ENSP00000264381.3:n.1517+56C=
NM_000055.2:c.1517+56C= NP_000046.1:n.1517+56C=
NM_000055.3:c.1517+56C= NP_000046.1:n.1517+56C=
NR_137635.1:n.159+7853C=
NR_137635.2:n.110+7853C=
NR_137636.1:n.1684+56C=
NR_137636.2:n.1635+56C=
ENST00000264381.7:c.1517+56C= ENSP00000264381.3:n.1517+56C=
ENST00000479451.5:c.107+7853C= ENSP00000418325.1:n.107+7853C=
ENST00000482958.1:c.1517+56C= ENSP00000419804.1:n.1517+56C=
ENST00000488954.1:c.107+7853C= ENSP00000418504.1:n.107+7853C=
ENST00000497011.5:c.1517+56C= ENSP00000419505.1:n.1517+56C=
XM_005247685.1:c.1640+56C= XP_005247742.1:n.1640+56C=