Canonical Allele Identifier: CA355113811

Gene: BCHE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1787A>C MANE Select	ENSP00000264381.3:p.Lys596Thr
ENST00000264381.7:c.1787A>C	ENSP00000264381.3:p.Lys596Thr
ENST00000479451.5:c.377A>C	ENSP00000418325.1:p.Lys126Thr
ENST00000482958.1:c.*293A>C	ENSP00000419804.1:n.*293A>C
ENST00000497011.5:c.*177A>C	ENSP00000419505.1:n.*177A>C
NM_000055.2:c.1787A>C	NP_000046.1:p.Lys596Thr
XM_005247685.1:c.1910A>C	XP_005247742.1:p.Lys637Thr
NM_000055.3:c.1787A>C	NP_000046.1:p.Lys596Thr
NR_137635.1:n.429A>C
NR_137636.1:n.2033A>C
NM_000055.4:c.1787A>C MANE Select	NP_000046.1:p.Lys596Thr
NR_137635.2:n.380A>C
NR_137636.2:n.1984A>C