Canonical Allele Identifier: CA2692191

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773421G>A , CM000665.2:g.165773421G>A	GRCh38
NC_000003.11:g.165491209G>A , CM000665.1:g.165491209G>A	GRCh37
NC_000003.10:g.166973903G>A	NCBI36
NG_009031.1:g.69045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1770C>T MANE Select	ENSP00000264381.3:p.Asn590=
ENST00000264381.7:c.1770C>T	ENSP00000264381.3:p.Asn590=
ENST00000479451.5:c.360C>T	ENSP00000418325.1:p.Asn120=
ENST00000482958.1:c.*276C>T	ENSP00000419804.1:n.*276C>T
ENST00000497011.5:c.*160C>T	ENSP00000419505.1:n.*160C>T
NM_000055.2:c.1770C>T	NP_000046.1:p.Asn590=
XM_005247685.1:c.1893C>T	XP_005247742.1:p.Asn631=
NM_000055.3:c.1770C>T	NP_000046.1:p.Asn590=
NR_137635.1:n.412C>T
NR_137636.1:n.2016C>T
NM_000055.4:c.1770C>T MANE Select	NP_000046.1:p.Asn590=
NR_137635.2:n.363C>T
NR_137636.2:n.1967C>T