Canonical Allele Identifier: CA355113810

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491192T>C (hg19) ; chr3:g.165773404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773404T>C , CM000665.2:g.165773404T>C	GRCh38
NC_000003.11:g.165491192T>C , CM000665.1:g.165491192T>C	GRCh37
NC_000003.10:g.166973886T>C	NCBI36
NG_009031.1:g.69062A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1787A>G MANE Select	ENSP00000264381.3:p.Lys596Arg
ENST00000264381.7:c.1787A>G	ENSP00000264381.3:p.Lys596Arg
ENST00000479451.5:c.377A>G	ENSP00000418325.1:p.Lys126Arg
ENST00000482958.1:c.*293A>G	ENSP00000419804.1:n.*293A>G
ENST00000497011.5:c.*177A>G	ENSP00000419505.1:n.*177A>G
NM_000055.2:c.1787A>G	NP_000046.1:p.Lys596Arg
XM_005247685.1:c.1910A>G	XP_005247742.1:p.Lys637Arg
NM_000055.3:c.1787A>G	NP_000046.1:p.Lys596Arg
NR_137635.1:n.429A>G
NR_137636.1:n.2033A>G
NM_000055.4:c.1787A>G MANE Select	NP_000046.1:p.Lys596Arg
NR_137635.2:n.380A>G
NR_137636.2:n.1984A>G