Canonical Allele Identifier: CA355111862

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830148C>G , CM000665.2:g.165830148C>G	GRCh38
NC_000003.11:g.165547936C>G , CM000665.1:g.165547936C>G	GRCh37
NC_000003.10:g.167030630C>G	NCBI36
NG_009031.1:g.12318G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.886G>C MANE Select	NP_000046.1:p.Asp296His
ENST00000264381.8:c.886G>C MANE Select	ENSP00000264381.3:p.Asp296His
NM_000055.2:c.886G>C	NP_000046.1:p.Asp296His
NM_000055.3:c.886G>C	NP_000046.1:p.Asp296His
NR_137635.1:n.159+7166G>C
NR_137635.2:n.110+7166G>C
NR_137636.1:n.1053G>C
NR_137636.2:n.1004G>C
ENST00000264381.7:c.886G>C	ENSP00000264381.3:p.Asp296His
ENST00000479451.5:c.107+7166G>C	ENSP00000418325.1:n.107+7166G>C
ENST00000482958.1:c.886G>C	ENSP00000419804.1:p.Asp296His
ENST00000488954.1:c.107+7166G>C	ENSP00000418504.1:n.107+7166G>C
ENST00000497011.5:c.886G>C	ENSP00000419505.1:p.Asp296His
XM_005247685.1:c.1009G>C	XP_005247742.1:p.Asp337His