Canonical Allele Identifier: CA436969094

Gene: BCHE

Linked Data

• ClinVar Variation Id: 901556
• ClinVar RCV Id: RCV001147517
• dbSNP Id: rs1398040946
• gnomAD v4: 3-165830221-C-T
• MyVariant Identifiers: chr3:g.165548009C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830221C>T , CM000665.2:g.165830221C>T	GRCh38
NC_000003.11:g.165548009C>T , CM000665.1:g.165548009C>T	GRCh37
NC_000003.10:g.167030703C>T	NCBI36
NG_009031.1:g.12245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.813G>A MANE Select	ENSP00000264381.3:p.Thr271=
ENST00000264381.7:c.813G>A	ENSP00000264381.3:p.Thr271=
ENST00000479451.5:c.107+7093G>A	ENSP00000418325.1:n.107+7093G>A
ENST00000482958.1:c.813G>A	ENSP00000419804.1:p.Thr271=
ENST00000488954.1:c.107+7093G>A	ENSP00000418504.1:n.107+7093G>A
ENST00000497011.5:c.813G>A	ENSP00000419505.1:p.Thr271=
NM_000055.2:c.813G>A	NP_000046.1:p.Thr271=
XM_005247685.1:c.936G>A	XP_005247742.1:p.Thr312=
NM_000055.3:c.813G>A	NP_000046.1:p.Thr271=
NR_137635.1:n.159+7093G>A
NR_137636.1:n.980G>A
NM_000055.4:c.813G>A MANE Select	NP_000046.1:p.Thr271=
NR_137635.2:n.110+7093G>A
NR_137636.2:n.931G>A