Canonical Allele Identifier: CA355112007

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165548002A>T (hg19) ; chr3:g.165830214A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830214A>T , CM000665.2:g.165830214A>T	GRCh38
NC_000003.11:g.165548002A>T , CM000665.1:g.165548002A>T	GRCh37
NC_000003.10:g.167030696A>T	NCBI36
NG_009031.1:g.12252T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.820T>A MANE Select	ENSP00000264381.3:p.Leu274Ile
ENST00000264381.7:c.820T>A	ENSP00000264381.3:p.Leu274Ile
ENST00000479451.5:c.107+7100T>A	ENSP00000418325.1:n.107+7100T>A
ENST00000482958.1:c.820T>A	ENSP00000419804.1:p.Leu274Ile
ENST00000488954.1:c.107+7100T>A	ENSP00000418504.1:n.107+7100T>A
ENST00000497011.5:c.820T>A	ENSP00000419505.1:p.Leu274Ile
NM_000055.2:c.820T>A	NP_000046.1:p.Leu274Ile
XM_005247685.1:c.943T>A	XP_005247742.1:p.Leu315Ile
NM_000055.3:c.820T>A	NP_000046.1:p.Leu274Ile
NR_137635.1:n.159+7100T>A
NR_137636.1:n.987T>A
NM_000055.4:c.820T>A MANE Select	NP_000046.1:p.Leu274Ile
NR_137635.2:n.110+7100T>A
NR_137636.2:n.938T>A