Canonical Allele Identifier: CA122971
Gene: BCHE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13228
ClinVar RCV Id: RCV000014132
dbSNP Id: rs104893684

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830030A>G , CM000665.2:g.165830030A>G GRCh38
NC_000003.11:g.165547818A>G , CM000665.1:g.165547818A>G GRCh37
NC_000003.10:g.167030512A>G NCBI36
NG_009031.1:g.12436T>C

Transcript Alleles

HGVS Amino-acid change
NM_000055.2:c.1004T>C VV NP_000046.1:p.Leu335Pro
XM_005247685.1:c.1127T>C XP_005247742.1:p.Leu376Pro
NM_000055.3:c.1004T>C VV NP_000046.1:p.Leu335Pro
NR_137635.1:n.159+7284T>C
NR_137636.1:n.1171T>C
NM_000055.4:c.1004T>C VV MANE Preferred NP_000046.1:p.Leu335Pro
ENST00000264381.7:c.1004T>C ENSP00000264381.3:p.Leu335Pro
ENST00000479451.5:n.107+7284T>C ENSP00000418325.1:p.=
ENST00000482958.1:c.1004T>C ENSP00000419804.1:p.Leu335Pro
ENST00000488954.1:n.107+7284T>C ENSP00000418504.1:p.=
ENST00000497011.5:c.1004T>C ENSP00000419505.1:p.Leu335Pro