Canonical Allele Identifier: CA355114192

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773492C>G , CM000665.2:g.165773492C>G	GRCh38
NC_000003.11:g.165491280C>G , CM000665.1:g.165491280C>G	GRCh37
NC_000003.10:g.166973974C>G	NCBI36
NG_009031.1:g.68974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1699G>C MANE Select	ENSP00000264381.3:p.Ala567Pro
ENST00000264381.7:c.1699G>C	ENSP00000264381.3:p.Ala567Pro
ENST00000479451.5:c.289G>C	ENSP00000418325.1:p.Ala97Pro
ENST00000482958.1:c.*205G>C	ENSP00000419804.1:n.*205G>C
ENST00000497011.5:c.*89G>C	ENSP00000419505.1:n.*89G>C
NM_000055.2:c.1699G>C	NP_000046.1:p.Ala567Pro
XM_005247685.1:c.1822G>C	XP_005247742.1:p.Ala608Pro
NM_000055.3:c.1699G>C	NP_000046.1:p.Ala567Pro
NR_137635.1:n.341G>C
NR_137636.1:n.1945G>C
NM_000055.4:c.1699G>C MANE Select	NP_000046.1:p.Ala567Pro
NR_137635.2:n.292G>C
NR_137636.2:n.1896G>C