Canonical Allele Identifier: CA355113801

Gene: BCHE

Linked Data

• gnomAD v4: 3-165773401-T-C
• MyVariant Identifiers: chr3:g.165491189T>C (hg19) ; chr3:g.165773401T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1790A>G MANE Select	ENSP00000264381.3:p.Glu597Gly
ENST00000264381.7:c.1790A>G	ENSP00000264381.3:p.Glu597Gly
ENST00000479451.5:c.380A>G	ENSP00000418325.1:p.Glu127Gly
ENST00000482958.1:c.*296A>G	ENSP00000419804.1:n.*296A>G
ENST00000497011.5:c.*180A>G	ENSP00000419505.1:n.*180A>G
NM_000055.2:c.1790A>G	NP_000046.1:p.Glu597Gly
XM_005247685.1:c.1913A>G	XP_005247742.1:p.Glu638Gly
NM_000055.3:c.1790A>G	NP_000046.1:p.Glu597Gly
NR_137635.1:n.432A>G
NR_137636.1:n.2036A>G
NM_000055.4:c.1790A>G MANE Select	NP_000046.1:p.Glu597Gly
NR_137635.2:n.383A>G
NR_137636.2:n.1987A>G