Canonical Allele Identifier: CA3108883023
Community Standard Title: NM_000055.4(BCHE):c.1203C= (p.Tyr401=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829831G= , CM000665.2:g.165829831G= GRCh38
NC_000003.11:g.165547619G= , CM000665.1:g.165547619G= GRCh37
NC_000003.10:g.167030313G= NCBI36
NG_009031.1:g.12635C=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1203C= MANE Select NP_000046.1:p.Tyr401=
ENST00000264381.8:c.1203C= MANE Select ENSP00000264381.3:p.Tyr401=
NM_000055.2:c.1203C= NP_000046.1:p.Tyr401=
NM_000055.3:c.1203C= NP_000046.1:p.Tyr401=
NR_137635.1:n.159+7483C=
NR_137635.2:n.110+7483C=
NR_137636.1:n.1370C=
NR_137636.2:n.1321C=
ENST00000264381.7:c.1203C= ENSP00000264381.3:p.Tyr401=
ENST00000479451.5:c.107+7483C= ENSP00000418325.1:n.107+7483C=
ENST00000482958.1:c.1203C= ENSP00000419804.1:p.Tyr401=
ENST00000488954.1:c.107+7483C= ENSP00000418504.1:n.107+7483C=
ENST00000497011.5:c.1203C= ENSP00000419505.1:p.Tyr401=
XM_005247685.1:c.1326C= XP_005247742.1:p.Tyr442=