Canonical Allele Identifier: CA355110574

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829565A>T , CM000665.2:g.165829565A>T	GRCh38
NC_000003.11:g.165547353A>T , CM000665.1:g.165547353A>T	GRCh37
NC_000003.10:g.167030047A>T	NCBI36
NG_009031.1:g.12901T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.1469T>A MANE Select	NP_000046.1:p.Ile490Asn
ENST00000264381.8:c.1469T>A MANE Select	ENSP00000264381.3:p.Ile490Asn
NM_000055.2:c.1469T>A	NP_000046.1:p.Ile490Asn
NM_000055.3:c.1469T>A	NP_000046.1:p.Ile490Asn
NR_137635.1:n.159+7749T>A
NR_137635.2:n.110+7749T>A
NR_137636.1:n.1636T>A
NR_137636.2:n.1587T>A
ENST00000264381.7:c.1469T>A	ENSP00000264381.3:p.Ile490Asn
ENST00000479451.5:c.107+7749T>A	ENSP00000418325.1:n.107+7749T>A
ENST00000482958.1:c.1469T>A	ENSP00000419804.1:p.Ile490Asn
ENST00000488954.1:c.107+7749T>A	ENSP00000418504.1:n.107+7749T>A
ENST00000497011.5:c.1469T>A	ENSP00000419505.1:p.Ile490Asn
XM_005247685.1:c.1592T>A	XP_005247742.1:p.Ile531Asn