Canonical Allele Identifier: CA355113802

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165491189T>G (hg19) ; chr3:g.165773401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773401T>G , CM000665.2:g.165773401T>G	GRCh38
NC_000003.11:g.165491189T>G , CM000665.1:g.165491189T>G	GRCh37
NC_000003.10:g.166973883T>G	NCBI36
NG_009031.1:g.69065A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1790A>C MANE Select	ENSP00000264381.3:p.Glu597Ala
ENST00000264381.7:c.1790A>C	ENSP00000264381.3:p.Glu597Ala
ENST00000479451.5:c.380A>C	ENSP00000418325.1:p.Glu127Ala
ENST00000482958.1:c.*296A>C	ENSP00000419804.1:n.*296A>C
ENST00000497011.5:c.*180A>C	ENSP00000419505.1:n.*180A>C
NM_000055.2:c.1790A>C	NP_000046.1:p.Glu597Ala
XM_005247685.1:c.1913A>C	XP_005247742.1:p.Glu638Ala
NM_000055.3:c.1790A>C	NP_000046.1:p.Glu597Ala
NR_137635.1:n.432A>C
NR_137636.1:n.2036A>C
NM_000055.4:c.1790A>C MANE Select	NP_000046.1:p.Glu597Ala
NR_137635.2:n.383A>C
NR_137636.2:n.1987A>C