Canonical Allele Identifier: CA87396510

Gene: BCHE

Linked Data

• dbSNP Id: rs373551373
• gnomAD v3: 3-165773393-C-T
• gnomAD v4: 3-165773393-C-T
• MyVariant Identifiers: chr3:g.165491181C>T (hg19) ; chr3:g.165773393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773393C>T , CM000665.2:g.165773393C>T	GRCh38
NC_000003.11:g.165491181C>T , CM000665.1:g.165491181C>T	GRCh37
NC_000003.10:g.166973875C>T	NCBI36
NG_009031.1:g.69073G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1798G>A MANE Select	ENSP00000264381.3:p.Val600Met
ENST00000264381.7:c.1798G>A	ENSP00000264381.3:p.Val600Met
ENST00000479451.5:c.388G>A	ENSP00000418325.1:p.Val130Met
ENST00000482958.1:c.*304G>A	ENSP00000419804.1:n.*304G>A
ENST00000497011.5:c.*188G>A	ENSP00000419505.1:n.*188G>A
NM_000055.2:c.1798G>A	NP_000046.1:p.Val600Met
XM_005247685.1:c.1921G>A	XP_005247742.1:p.Val641Met
NM_000055.3:c.1798G>A	NP_000046.1:p.Val600Met
NR_137635.1:n.440G>A
NR_137636.1:n.2044G>A
NM_000055.4:c.1798G>A MANE Select	NP_000046.1:p.Val600Met
NR_137635.2:n.391G>A
NR_137636.2:n.1995G>A