Canonical Allele Identifier: CA355113743

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165548814C>T (hg19) ; chr3:g.165831026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831026C>T , CM000665.2:g.165831026C>T	GRCh38
NC_000003.11:g.165548814C>T , CM000665.1:g.165548814C>T	GRCh37
NC_000003.10:g.167031508C>T	NCBI36
NG_009031.1:g.11440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.8G>A MANE Select	ENSP00000264381.3:p.Ser3Asn
ENST00000264381.7:c.8G>A	ENSP00000264381.3:p.Ser3Asn
ENST00000479451.5:c.107+6288G>A	ENSP00000418325.1:n.107+6288G>A
ENST00000482958.1:c.8G>A	ENSP00000419804.1:p.Ser3Asn
ENST00000488954.1:c.107+6288G>A	ENSP00000418504.1:n.107+6288G>A
ENST00000497011.5:c.8G>A	ENSP00000419505.1:p.Ser3Asn
NM_000055.2:c.8G>A	NP_000046.1:p.Ser3Asn
XM_005247685.1:c.131G>A	XP_005247742.1:p.Ser44Asn
NM_000055.3:c.8G>A	NP_000046.1:p.Ser3Asn
NR_137635.1:n.159+6288G>A
NR_137636.1:n.175G>A
NM_000055.4:c.8G>A MANE Select	NP_000046.1:p.Ser3Asn
NR_137635.2:n.110+6288G>A
NR_137636.2:n.126G>A