Canonical Allele Identifier: CA3108883450
Community Standard Title: NM_000055.4(BCHE):c.1148A= (p.Lys383=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829886T= , CM000665.2:g.165829886T= GRCh38
NC_000003.11:g.165547674T= , CM000665.1:g.165547674T= GRCh37
NC_000003.10:g.167030368T= NCBI36
NG_009031.1:g.12580A=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1148A= MANE Select NP_000046.1:p.Lys383=
ENST00000264381.8:c.1148A= MANE Select ENSP00000264381.3:p.Lys383=
NM_000055.2:c.1148A= NP_000046.1:p.Lys383=
NM_000055.3:c.1148A= NP_000046.1:p.Lys383=
NR_137635.1:n.159+7428A=
NR_137635.2:n.110+7428A=
NR_137636.1:n.1315A=
NR_137636.2:n.1266A=
ENST00000264381.7:c.1148A= ENSP00000264381.3:p.Lys383=
ENST00000479451.5:c.107+7428A= ENSP00000418325.1:n.107+7428A=
ENST00000482958.1:c.1148A= ENSP00000419804.1:p.Lys383=
ENST00000488954.1:c.107+7428A= ENSP00000418504.1:n.107+7428A=
ENST00000497011.5:c.1148A= ENSP00000419505.1:p.Lys383=
XM_005247685.1:c.1271A= XP_005247742.1:p.Lys424=