Canonical Allele Identifier: CA355111705

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830072G>T , CM000665.2:g.165830072G>T	GRCh38
NC_000003.11:g.165547860G>T , CM000665.1:g.165547860G>T	GRCh37
NC_000003.10:g.167030554G>T	NCBI36
NG_009031.1:g.12394C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.962C>A MANE Select	NP_000046.1:p.Thr321Asn
ENST00000264381.8:c.962C>A MANE Select	ENSP00000264381.3:p.Thr321Asn
NM_000055.2:c.962C>A	NP_000046.1:p.Thr321Asn
NM_000055.3:c.962C>A	NP_000046.1:p.Thr321Asn
NR_137635.1:n.159+7242C>A
NR_137635.2:n.110+7242C>A
NR_137636.1:n.1129C>A
NR_137636.2:n.1080C>A
ENST00000264381.7:c.962C>A	ENSP00000264381.3:p.Thr321Asn
ENST00000479451.5:c.107+7242C>A	ENSP00000418325.1:n.107+7242C>A
ENST00000482958.1:c.962C>A	ENSP00000419804.1:p.Thr321Asn
ENST00000488954.1:c.107+7242C>A	ENSP00000418504.1:n.107+7242C>A
ENST00000497011.5:c.962C>A	ENSP00000419505.1:p.Thr321Asn
XM_005247685.1:c.1085C>A	XP_005247742.1:p.Thr362Asn