Canonical Allele Identifier: CA355111252

Gene: BCHE

Linked Data

• dbSNP Id: rs1216929573
• gnomAD v2: 3-165547656-A-T
• gnomAD v4: 3-165829868-A-T
• MyVariant Identifiers: chr3:g.165547656A>T (hg19) ; chr3:g.165829868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829868A>T , CM000665.2:g.165829868A>T	GRCh38
NC_000003.11:g.165547656A>T , CM000665.1:g.165547656A>T	GRCh37
NC_000003.10:g.167030350A>T	NCBI36
NG_009031.1:g.12598T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1166T>A MANE Select	ENSP00000264381.3:p.Val389Glu
ENST00000264381.7:c.1166T>A	ENSP00000264381.3:p.Val389Glu
ENST00000479451.5:c.107+7446T>A	ENSP00000418325.1:n.107+7446T>A
ENST00000482958.1:c.1166T>A	ENSP00000419804.1:p.Val389Glu
ENST00000488954.1:c.107+7446T>A	ENSP00000418504.1:n.107+7446T>A
ENST00000497011.5:c.1166T>A	ENSP00000419505.1:p.Val389Glu
NM_000055.2:c.1166T>A	NP_000046.1:p.Val389Glu
XM_005247685.1:c.1289T>A	XP_005247742.1:p.Val430Glu
NM_000055.3:c.1166T>A	NP_000046.1:p.Val389Glu
NR_137635.1:n.159+7446T>A
NR_137636.1:n.1333T>A
NM_000055.4:c.1166T>A MANE Select	NP_000046.1:p.Val389Glu
NR_137635.2:n.110+7446T>A
NR_137636.2:n.1284T>A