Canonical Allele Identifier: CA3108883115
Community Standard Title: NM_000055.4(BCHE):c.1202A= (p.Tyr401=)
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829832T= , CM000665.2:g.165829832T= GRCh38
NC_000003.11:g.165547620T= , CM000665.1:g.165547620T= GRCh37
NC_000003.10:g.167030314T= NCBI36
NG_009031.1:g.12634A=

Transcript Alleles

HGVS Amino-acid Change
NM_000055.4:c.1202A= MANE Select NP_000046.1:p.Tyr401=
ENST00000264381.8:c.1202A= MANE Select ENSP00000264381.3:p.Tyr401=
NM_000055.2:c.1202A= NP_000046.1:p.Tyr401=
NM_000055.3:c.1202A= NP_000046.1:p.Tyr401=
NR_137635.1:n.159+7482A=
NR_137635.2:n.110+7482A=
NR_137636.1:n.1369A=
NR_137636.2:n.1320A=
ENST00000264381.7:c.1202A= ENSP00000264381.3:p.Tyr401=
ENST00000479451.5:c.107+7482A= ENSP00000418325.1:n.107+7482A=
ENST00000482958.1:c.1202A= ENSP00000419804.1:p.Tyr401=
ENST00000488954.1:c.107+7482A= ENSP00000418504.1:n.107+7482A=
ENST00000497011.5:c.1202A= ENSP00000419505.1:p.Tyr401=
XM_005247685.1:c.1325A= XP_005247742.1:p.Tyr442=