Canonical Allele Identifier: CA355112073

Gene: BCHE

Linked Data

• dbSNP Id: rs1249143572
• gnomAD v2: 3-165548032-G-C
• gnomAD v4: 3-165830244-G-C
• MyVariant Identifiers: chr3:g.165548032G>C (hg19) ; chr3:g.165830244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830244G>C , CM000665.2:g.165830244G>C	GRCh38
NC_000003.11:g.165548032G>C , CM000665.1:g.165548032G>C	GRCh37
NC_000003.10:g.167030726G>C	NCBI36
NG_009031.1:g.12222C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.790C>G MANE Select	ENSP00000264381.3:p.Leu264Val
ENST00000264381.7:c.790C>G	ENSP00000264381.3:p.Leu264Val
ENST00000479451.5:c.107+7070C>G	ENSP00000418325.1:n.107+7070C>G
ENST00000482958.1:c.790C>G	ENSP00000419804.1:p.Leu264Val
ENST00000488954.1:c.107+7070C>G	ENSP00000418504.1:n.107+7070C>G
ENST00000497011.5:c.790C>G	ENSP00000419505.1:p.Leu264Val
NM_000055.2:c.790C>G	NP_000046.1:p.Leu264Val
XM_005247685.1:c.913C>G	XP_005247742.1:p.Leu305Val
NM_000055.3:c.790C>G	NP_000046.1:p.Leu264Val
NR_137635.1:n.159+7070C>G
NR_137636.1:n.957C>G
NM_000055.4:c.790C>G MANE Select	NP_000046.1:p.Leu264Val
NR_137635.2:n.110+7070C>G
NR_137636.2:n.908C>G