Canonical Allele Identifier: CA87410314
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 2407567
ClinVar RCV Id: RCV002778981
dbSNP Id: rs973429696

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829778T>A , CM000665.2:g.165829778T>A GRCh38
NC_000003.11:g.165547566T>A , CM000665.1:g.165547566T>A GRCh37
NC_000003.10:g.167030260T>A NCBI36
NG_009031.1:g.12688A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1256A>T MANE Select ENSP00000264381.3:p.Asp419Val
ENST00000264381.7:c.1256A>T ENSP00000264381.3:p.Asp419Val
ENST00000479451.5:c.107+7536A>T ENSP00000418325.1:n.107+7536A>T
ENST00000482958.1:c.1256A>T ENSP00000419804.1:p.Asp419Val
ENST00000488954.1:c.107+7536A>T ENSP00000418504.1:n.107+7536A>T
ENST00000497011.5:c.1256A>T ENSP00000419505.1:p.Asp419Val
NM_000055.2:c.1256A>T NP_000046.1:p.Asp419Val
XM_005247685.1:c.1379A>T XP_005247742.1:p.Asp460Val
NM_000055.3:c.1256A>T NP_000046.1:p.Asp419Val
NR_137635.1:n.159+7536A>T
NR_137636.1:n.1423A>T
NM_000055.4:c.1256A>T MANE Select NP_000046.1:p.Asp419Val
NR_137635.2:n.110+7536A>T
NR_137636.2:n.1374A>T