Canonical Allele Identifier: CA2692186

Gene: BCHE

Linked Data

• dbSNP Id: rs373551373
• ExAC: 3:165491181 C / A
• gnomAD v2: 3-165491181-C-A
• gnomAD v4: 3-165773393-C-A
• MyVariant Identifiers: chr3:g.165491181C>A (hg19) ; chr3:g.165773393C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1798G>T MANE Select	ENSP00000264381.3:p.Val600Leu
ENST00000264381.7:c.1798G>T	ENSP00000264381.3:p.Val600Leu
ENST00000479451.5:c.388G>T	ENSP00000418325.1:p.Val130Leu
ENST00000482958.1:c.*304G>T	ENSP00000419804.1:n.*304G>T
ENST00000497011.5:c.*188G>T	ENSP00000419505.1:n.*188G>T
NM_000055.2:c.1798G>T	NP_000046.1:p.Val600Leu
XM_005247685.1:c.1921G>T	XP_005247742.1:p.Val641Leu
NM_000055.3:c.1798G>T	NP_000046.1:p.Val600Leu
NR_137635.1:n.440G>T
NR_137636.1:n.2044G>T
NM_000055.4:c.1798G>T MANE Select	NP_000046.1:p.Val600Leu
NR_137635.2:n.391G>T
NR_137636.2:n.1995G>T