Canonical Allele Identifier: CA355114202

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491282T>A (hg19) ; chr3:g.165773494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773494T>A , CM000665.2:g.165773494T>A	GRCh38
NC_000003.11:g.165491282T>A , CM000665.1:g.165491282T>A	GRCh37
NC_000003.10:g.166973976T>A	NCBI36
NG_009031.1:g.68972A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1697A>T MANE Select	ENSP00000264381.3:p.Glu566Val
ENST00000264381.7:c.1697A>T	ENSP00000264381.3:p.Glu566Val
ENST00000479451.5:c.287A>T	ENSP00000418325.1:p.Glu96Val
ENST00000482958.1:c.*203A>T	ENSP00000419804.1:n.*203A>T
ENST00000497011.5:c.*87A>T	ENSP00000419505.1:n.*87A>T
NM_000055.2:c.1697A>T	NP_000046.1:p.Glu566Val
XM_005247685.1:c.1820A>T	XP_005247742.1:p.Glu607Val
NM_000055.3:c.1697A>T	NP_000046.1:p.Glu566Val
NR_137635.1:n.339A>T
NR_137636.1:n.1943A>T
NM_000055.4:c.1697A>T MANE Select	NP_000046.1:p.Glu566Val
NR_137635.2:n.290A>T
NR_137636.2:n.1894A>T