Canonical Allele Identifier: CA87410349

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830419C>T , CM000665.2:g.165830419C>T	GRCh38
NC_000003.11:g.165548207C>T , CM000665.1:g.165548207C>T	GRCh37
NC_000003.10:g.167030901C>T	NCBI36
NG_009031.1:g.12047G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.615G>A MANE Select	NP_000046.1:p.Trp205Ter
ENST00000264381.8:c.615G>A MANE Select	ENSP00000264381.3:p.Trp205Ter
NM_000055.2:c.615G>A	NP_000046.1:p.Trp205Ter
NM_000055.3:c.615G>A	NP_000046.1:p.Trp205Ter
NR_137635.1:n.159+6895G>A
NR_137635.2:n.110+6895G>A
NR_137636.1:n.782G>A
NR_137636.2:n.733G>A
ENST00000264381.7:c.615G>A	ENSP00000264381.3:p.Trp205Ter
ENST00000479451.5:c.107+6895G>A	ENSP00000418325.1:n.107+6895G>A
ENST00000482958.1:c.615G>A	ENSP00000419804.1:p.Trp205Ter
ENST00000488954.1:c.107+6895G>A	ENSP00000418504.1:n.107+6895G>A
ENST00000497011.5:c.615G>A	ENSP00000419505.1:p.Trp205Ter
XM_005247685.1:c.738G>A	XP_005247742.1:p.Trp246Ter