Canonical Allele Identifier: CA355111712

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830076G>T , CM000665.2:g.165830076G>T	GRCh38
NC_000003.11:g.165547864G>T , CM000665.1:g.165547864G>T	GRCh37
NC_000003.10:g.167030558G>T	NCBI36
NG_009031.1:g.12390C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.958C>A MANE Select	NP_000046.1:p.Pro320Thr
ENST00000264381.8:c.958C>A MANE Select	ENSP00000264381.3:p.Pro320Thr
NM_000055.2:c.958C>A	NP_000046.1:p.Pro320Thr
NM_000055.3:c.958C>A	NP_000046.1:p.Pro320Thr
NR_137635.1:n.159+7238C>A
NR_137635.2:n.110+7238C>A
NR_137636.1:n.1125C>A
NR_137636.2:n.1076C>A
ENST00000264381.7:c.958C>A	ENSP00000264381.3:p.Pro320Thr
ENST00000479451.5:c.107+7238C>A	ENSP00000418325.1:n.107+7238C>A
ENST00000482958.1:c.958C>A	ENSP00000419804.1:p.Pro320Thr
ENST00000488954.1:c.107+7238C>A	ENSP00000418504.1:n.107+7238C>A
ENST00000497011.5:c.958C>A	ENSP00000419505.1:p.Pro320Thr
XM_005247685.1:c.1081C>A	XP_005247742.1:p.Pro361Thr