Canonical Allele Identifier: CA355111232
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 3133359
ClinVar RCV Id: RCV004426252
dbSNP Id: rs1349421258

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829860A>G , CM000665.2:g.165829860A>G GRCh38
NC_000003.11:g.165547648A>G , CM000665.1:g.165547648A>G GRCh37
NC_000003.10:g.167030342A>G NCBI36
NG_009031.1:g.12606T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1174T>C MANE Select ENSP00000264381.3:p.Phe392Leu
ENST00000264381.7:c.1174T>C ENSP00000264381.3:p.Phe392Leu
ENST00000479451.5:c.107+7454T>C ENSP00000418325.1:n.107+7454T>C
ENST00000482958.1:c.1174T>C ENSP00000419804.1:p.Phe392Leu
ENST00000488954.1:c.107+7454T>C ENSP00000418504.1:n.107+7454T>C
ENST00000497011.5:c.1174T>C ENSP00000419505.1:p.Phe392Leu
NM_000055.2:c.1174T>C NP_000046.1:p.Phe392Leu
XM_005247685.1:c.1297T>C XP_005247742.1:p.Phe433Leu
NM_000055.3:c.1174T>C NP_000046.1:p.Phe392Leu
NR_137635.1:n.159+7454T>C
NR_137636.1:n.1341T>C
NM_000055.4:c.1174T>C MANE Select NP_000046.1:p.Phe392Leu
NR_137635.2:n.110+7454T>C
NR_137636.2:n.1292T>C