Canonical Allele Identifier: CA355114272

Gene: BCHE

Linked Data

• dbSNP Id: rs1712340191
• MyVariant Identifiers: chr3:g.165491292T>G (hg19) ; chr3:g.165773504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773504T>G , CM000665.2:g.165773504T>G	GRCh38
NC_000003.11:g.165491292T>G , CM000665.1:g.165491292T>G	GRCh37
NC_000003.10:g.166973986T>G	NCBI36
NG_009031.1:g.68962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1687A>C MANE Select	ENSP00000264381.3:p.Asn563His
ENST00000264381.7:c.1687A>C	ENSP00000264381.3:p.Asn563His
ENST00000479451.5:c.277A>C	ENSP00000418325.1:p.Asn93His
ENST00000482958.1:c.*193A>C	ENSP00000419804.1:n.*193A>C
ENST00000497011.5:c.*77A>C	ENSP00000419505.1:n.*77A>C
NM_000055.2:c.1687A>C	NP_000046.1:p.Asn563His
XM_005247685.1:c.1810A>C	XP_005247742.1:p.Asn604His
NM_000055.3:c.1687A>C	NP_000046.1:p.Asn563His
NR_137635.1:n.329A>C
NR_137636.1:n.1933A>C
NM_000055.4:c.1687A>C MANE Select	NP_000046.1:p.Asn563His
NR_137635.2:n.280A>C
NR_137636.2:n.1884A>C