Canonical Allele Identifier: CA2692410
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 225302
ClinVar RCV Id: RCV000490369
dbSNP Id: rs115624085

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830150T>C , CM000665.2:g.165830150T>C GRCh38
NC_000003.11:g.165547938T>C , CM000665.1:g.165547938T>C GRCh37
NC_000003.10:g.167030632T>C NCBI36
NG_009031.1:g.12316A>G

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.884A>G VV NP_000046.1:p.Lys295Arg
XM_005247685.1:c.1007A>G XP_005247742.1:p.Lys336Arg
NM_000055.3:c.884A>G VV NP_000046.1:p.Lys295Arg
NR_137635.1:n.159+7164A>G
NR_137636.1:n.1051A>G
NM_000055.4:c.884A>G VV MANE Preferred NP_000046.1:p.Lys295Arg
ENST00000264381.7:c.884A>G ENSP00000264381.3:p.Lys295Arg
ENST00000479451.5:n.107+7164A>G ENSP00000418325.1:p.=
ENST00000482958.1:c.884A>G ENSP00000419804.1:p.Lys295Arg
ENST00000488954.1:n.107+7164A>G ENSP00000418504.1:p.=
ENST00000497011.5:c.884A>G ENSP00000419505.1:p.Lys295Arg