Canonical Allele Identifier: CA355111924

Gene: BCHE

Linked Data

• dbSNP Id: rs1169174471
• gnomAD v2: 3-165547965-G-T
• gnomAD v4: 3-165830177-G-T
• MyVariant Identifiers: chr3:g.165547965G>T (hg19) ; chr3:g.165830177G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830177G>T , CM000665.2:g.165830177G>T	GRCh38
NC_000003.11:g.165547965G>T , CM000665.1:g.165547965G>T	GRCh37
NC_000003.10:g.167030659G>T	NCBI36
NG_009031.1:g.12289C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.857C>A MANE Select	ENSP00000264381.3:p.Thr286Asn
ENST00000264381.7:c.857C>A	ENSP00000264381.3:p.Thr286Asn
ENST00000479451.5:c.107+7137C>A	ENSP00000418325.1:n.107+7137C>A
ENST00000482958.1:c.857C>A	ENSP00000419804.1:p.Thr286Asn
ENST00000488954.1:c.107+7137C>A	ENSP00000418504.1:n.107+7137C>A
ENST00000497011.5:c.857C>A	ENSP00000419505.1:p.Thr286Asn
NM_000055.2:c.857C>A	NP_000046.1:p.Thr286Asn
XM_005247685.1:c.980C>A	XP_005247742.1:p.Thr327Asn
NM_000055.3:c.857C>A	NP_000046.1:p.Thr286Asn
NR_137635.1:n.159+7137C>A
NR_137636.1:n.1024C>A
NM_000055.4:c.857C>A MANE Select	NP_000046.1:p.Thr286Asn
NR_137635.2:n.110+7137C>A
NR_137636.2:n.975C>A