Canonical Allele Identifier: CA355113808

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491191T>G (hg19) ; chr3:g.165773403T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773403T>G , CM000665.2:g.165773403T>G	GRCh38
NC_000003.11:g.165491191T>G , CM000665.1:g.165491191T>G	GRCh37
NC_000003.10:g.166973885T>G	NCBI36
NG_009031.1:g.69063A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1788A>C MANE Select	ENSP00000264381.3:p.Lys596Asn
ENST00000264381.7:c.1788A>C	ENSP00000264381.3:p.Lys596Asn
ENST00000479451.5:c.378A>C	ENSP00000418325.1:p.Lys126Asn
ENST00000482958.1:c.*294A>C	ENSP00000419804.1:n.*294A>C
ENST00000497011.5:c.*178A>C	ENSP00000419505.1:n.*178A>C
NM_000055.2:c.1788A>C	NP_000046.1:p.Lys596Asn
XM_005247685.1:c.1911A>C	XP_005247742.1:p.Lys637Asn
NM_000055.3:c.1788A>C	NP_000046.1:p.Lys596Asn
NR_137635.1:n.430A>C
NR_137636.1:n.2034A>C
NM_000055.4:c.1788A>C MANE Select	NP_000046.1:p.Lys596Asn
NR_137635.2:n.381A>C
NR_137636.2:n.1985A>C