Canonical Allele Identifier: CA16040919
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 371014
ClinVar RCV Id: RCV000409122
dbSNP Id: rs762341786

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829750G>T , CM000665.2:g.165829750G>T GRCh38
NC_000003.11:g.165547538G>T , CM000665.1:g.165547538G>T GRCh37
NC_000003.10:g.167030232G>T NCBI36
NG_009031.1:g.12716C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1284C>A MANE Select ENSP00000264381.3:p.Cys428Ter
ENST00000264381.7:c.1284C>A ENSP00000264381.3:p.Cys428Ter
ENST00000479451.5:c.107+7564C>A ENSP00000418325.1:n.107+7564C>A
ENST00000482958.1:c.1284C>A ENSP00000419804.1:p.Cys428Ter
ENST00000488954.1:c.107+7564C>A ENSP00000418504.1:n.107+7564C>A
ENST00000497011.5:c.1284C>A ENSP00000419505.1:p.Cys428Ter
NM_000055.2:c.1284C>A NP_000046.1:p.Cys428Ter
XM_005247685.1:c.1407C>A XP_005247742.1:p.Cys469Ter
NM_000055.3:c.1284C>A NP_000046.1:p.Cys428Ter
NR_137635.1:n.159+7564C>A
NR_137636.1:n.1451C>A
NM_000055.4:c.1284C>A MANE Select NP_000046.1:p.Cys428Ter
NR_137635.2:n.110+7564C>A
NR_137636.2:n.1402C>A