Canonical Allele Identifier: CA2692452

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830358T>C , CM000665.2:g.165830358T>C	GRCh38
NC_000003.11:g.165548146T>C , CM000665.1:g.165548146T>C	GRCh37
NC_000003.10:g.167030840T>C	NCBI36
NG_009031.1:g.12108A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.676A>G MANE Select	NP_000046.1:p.Ser226Gly
ENST00000264381.8:c.676A>G MANE Select	ENSP00000264381.3:p.Ser226Gly
NM_000055.2:c.676A>G	NP_000046.1:p.Ser226Gly
NM_000055.3:c.676A>G	NP_000046.1:p.Ser226Gly
NR_137635.1:n.159+6956A>G
NR_137635.2:n.110+6956A>G
NR_137636.1:n.843A>G
NR_137636.2:n.794A>G
ENST00000264381.7:c.676A>G	ENSP00000264381.3:p.Ser226Gly
ENST00000479451.5:c.107+6956A>G	ENSP00000418325.1:n.107+6956A>G
ENST00000482958.1:c.676A>G	ENSP00000419804.1:p.Ser226Gly
ENST00000488954.1:c.107+6956A>G	ENSP00000418504.1:n.107+6956A>G
ENST00000497011.5:c.676A>G	ENSP00000419505.1:p.Ser226Gly
XM_005247685.1:c.799A>G	XP_005247742.1:p.Ser267Gly