Canonical Allele Identifier: CA355112182

Gene: BCHE

Linked Data

• ClinVar Variation Id: 3029270
• ClinVar RCV Id: RCV003896378
• dbSNP Id: rs1714913880
• MyVariant Identifiers: chr3:g.165548086T>G (hg19) ; chr3:g.165830298T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830298T>G , CM000665.2:g.165830298T>G	GRCh38
NC_000003.11:g.165548086T>G , CM000665.1:g.165548086T>G	GRCh37
NC_000003.10:g.167030780T>G	NCBI36
NG_009031.1:g.12168A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.736A>C MANE Select	ENSP00000264381.3:p.Thr246Pro
ENST00000264381.7:c.736A>C	ENSP00000264381.3:p.Thr246Pro
ENST00000479451.5:c.107+7016A>C	ENSP00000418325.1:n.107+7016A>C
ENST00000482958.1:c.736A>C	ENSP00000419804.1:p.Thr246Pro
ENST00000488954.1:c.107+7016A>C	ENSP00000418504.1:n.107+7016A>C
ENST00000497011.5:c.736A>C	ENSP00000419505.1:p.Thr246Pro
NM_000055.2:c.736A>C	NP_000046.1:p.Thr246Pro
XM_005247685.1:c.859A>C	XP_005247742.1:p.Thr287Pro
NM_000055.3:c.736A>C	NP_000046.1:p.Thr246Pro
NR_137635.1:n.159+7016A>C
NR_137636.1:n.903A>C
NM_000055.4:c.736A>C MANE Select	NP_000046.1:p.Thr246Pro
NR_137635.2:n.110+7016A>C
NR_137636.2:n.854A>C