Canonical Allele Identifier: CA355113767

Gene: BCHE

Linked Data

• dbSNP Id: rs1440540723
• gnomAD v2: 3-165491172-A-G
• gnomAD v4: 3-165773384-A-G
• MyVariant Identifiers: chr3:g.165491172A>G (hg19) ; chr3:g.165773384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773384A>G , CM000665.2:g.165773384A>G	GRCh38
NC_000003.11:g.165491172A>G , CM000665.1:g.165491172A>G	GRCh37
NC_000003.10:g.166973866A>G	NCBI36
NG_009031.1:g.69082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1807T>C MANE Select	ENSP00000264381.3:p.Ter603Gln
ENST00000264381.7:c.1807T>C	ENSP00000264381.3:p.Ter603Gln
ENST00000479451.5:c.397T>C	ENSP00000418325.1:p.Ter133Gln
ENST00000482958.1:c.*313T>C	ENSP00000419804.1:n.*313T>C
ENST00000497011.5:c.*197T>C	ENSP00000419505.1:n.*197T>C
NM_000055.2:c.1807T>C	NP_000046.1:p.Ter603Gln
XM_005247685.1:c.1930T>C	XP_005247742.1:p.Ter644Gln
NM_000055.3:c.1807T>C	NP_000046.1:p.Ter603Gln
NR_137635.1:n.449T>C
NR_137636.1:n.2053T>C
NM_000055.4:c.1807T>C MANE Select	NP_000046.1:p.Ter603Gln
NR_137635.2:n.400T>C
NR_137636.2:n.2004T>C