Canonical Allele Identifier: CA355112260

Gene: BCHE

Linked Data

• dbSNP Id: rs1389945251
• gnomAD v4: 3-165830333-A-T
• MyVariant Identifiers: chr3:g.165548121A>T (hg19) ; chr3:g.165830333A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830333A>T , CM000665.2:g.165830333A>T	GRCh38
NC_000003.11:g.165548121A>T , CM000665.1:g.165548121A>T	GRCh37
NC_000003.10:g.167030815A>T	NCBI36
NG_009031.1:g.12133T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.701T>A MANE Select	ENSP00000264381.3:p.Leu234Gln
ENST00000264381.7:c.701T>A	ENSP00000264381.3:p.Leu234Gln
ENST00000479451.5:c.107+6981T>A	ENSP00000418325.1:n.107+6981T>A
ENST00000482958.1:c.701T>A	ENSP00000419804.1:p.Leu234Gln
ENST00000488954.1:c.107+6981T>A	ENSP00000418504.1:n.107+6981T>A
ENST00000497011.5:c.701T>A	ENSP00000419505.1:p.Leu234Gln
NM_000055.2:c.701T>A	NP_000046.1:p.Leu234Gln
XM_005247685.1:c.824T>A	XP_005247742.1:p.Leu275Gln
NM_000055.3:c.701T>A	NP_000046.1:p.Leu234Gln
NR_137635.1:n.159+6981T>A
NR_137636.1:n.868T>A
NM_000055.4:c.701T>A MANE Select	NP_000046.1:p.Leu234Gln
NR_137635.2:n.110+6981T>A
NR_137636.2:n.819T>A