Canonical Allele Identifier: CA2692199

Gene: BCHE

Linked Data

• dbSNP Id: rs762988755
• ExAC: 3:165491249 C / T
• gnomAD v2: 3-165491249-C-T
• gnomAD v3: 3-165773461-C-T
• gnomAD v4: 3-165773461-C-T
• MyVariant Identifiers: chr3:g.165491249C>T (hg19) ; chr3:g.165773461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773461C>T , CM000665.2:g.165773461C>T	GRCh38
NC_000003.11:g.165491249C>T , CM000665.1:g.165491249C>T	GRCh37
NC_000003.10:g.166973943C>T	NCBI36
NG_009031.1:g.69005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1730G>A MANE Select	ENSP00000264381.3:p.Arg577His
ENST00000264381.7:c.1730G>A	ENSP00000264381.3:p.Arg577His
ENST00000479451.5:c.320G>A	ENSP00000418325.1:p.Arg107His
ENST00000482958.1:c.*236G>A	ENSP00000419804.1:n.*236G>A
ENST00000497011.5:c.*120G>A	ENSP00000419505.1:n.*120G>A
NM_000055.2:c.1730G>A	NP_000046.1:p.Arg577His
XM_005247685.1:c.1853G>A	XP_005247742.1:p.Arg618His
NM_000055.3:c.1730G>A	NP_000046.1:p.Arg577His
NR_137635.1:n.372G>A
NR_137636.1:n.1976G>A
NM_000055.4:c.1730G>A MANE Select	NP_000046.1:p.Arg577His
NR_137635.2:n.323G>A
NR_137636.2:n.1927G>A