Canonical Allele Identifier: CA355113442

Gene: BCHE

Linked Data

• dbSNP Id: rs1560023822
• gnomAD v2: 3-165548680-C-T
• gnomAD v4: 3-165830892-C-T
• MyVariant Identifiers: chr3:g.165548680C>T (hg19) ; chr3:g.165548680_165548682delinsTTG (hg19) ; chr3:g.165830892C>T (hg38) ; chr3:g.165830892_165830894delinsTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830892C>T , CM000665.2:g.165830892C>T	GRCh38
NC_000003.11:g.165548680C>T , CM000665.1:g.165548680C>T	GRCh37
NC_000003.10:g.167031374C>T	NCBI36
NG_009031.1:g.11574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.142G>A MANE Select	ENSP00000264381.3:p.Val48Ile
ENST00000264381.7:c.142G>A	ENSP00000264381.3:p.Val48Ile
ENST00000479451.5:c.107+6422G>A	ENSP00000418325.1:n.107+6422G>A
ENST00000482958.1:c.142G>A	ENSP00000419804.1:p.Val48Ile
ENST00000488954.1:c.107+6422G>A	ENSP00000418504.1:n.107+6422G>A
ENST00000497011.5:c.142G>A	ENSP00000419505.1:p.Val48Ile
NM_000055.2:c.142G>A	NP_000046.1:p.Val48Ile
XM_005247685.1:c.265G>A	XP_005247742.1:p.Val89Ile
NM_000055.3:c.142G>A	NP_000046.1:p.Val48Ile
NR_137635.1:n.159+6422G>A
NR_137636.1:n.309G>A
NM_000055.4:c.142G>A MANE Select	NP_000046.1:p.Val48Ile
NR_137635.2:n.110+6422G>A
NR_137636.2:n.260G>A