Canonical Allele Identifier: CA355112603

Gene: BCHE

Linked Data

• dbSNP Id: rs1560023372
• gnomAD v2: 3-165548284-C-T
• gnomAD v4: 3-165830496-C-T
• MyVariant Identifiers: chr3:g.165548284C>T (hg19) ; chr3:g.165548284_165548300delinsTTAGGGCACCCACCCTA (hg19) ; chr3:g.165830496C>T (hg38) ; chr3:g.165830496_165830512delinsTTAGGGCACCCACCCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830496C>T , CM000665.2:g.165830496C>T	GRCh38
NC_000003.11:g.165548284C>T , CM000665.1:g.165548284C>T	GRCh37
NC_000003.10:g.167030978C>T	NCBI36
NG_009031.1:g.11970G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.538G>A MANE Select	ENSP00000264381.3:p.Gly180Arg
ENST00000264381.7:c.538G>A	ENSP00000264381.3:p.Gly180Arg
ENST00000479451.5:c.107+6818G>A	ENSP00000418325.1:n.107+6818G>A
ENST00000482958.1:c.538G>A	ENSP00000419804.1:p.Gly180Arg
ENST00000488954.1:c.107+6818G>A	ENSP00000418504.1:n.107+6818G>A
ENST00000497011.5:c.538G>A	ENSP00000419505.1:p.Gly180Arg
NM_000055.2:c.538G>A	NP_000046.1:p.Gly180Arg
XM_005247685.1:c.661G>A	XP_005247742.1:p.Gly221Arg
NM_000055.3:c.538G>A	NP_000046.1:p.Gly180Arg
NR_137635.1:n.159+6818G>A
NR_137636.1:n.705G>A
NM_000055.4:c.538G>A MANE Select	NP_000046.1:p.Gly180Arg
NR_137635.2:n.110+6818G>A
NR_137636.2:n.656G>A