Canonical Allele Identifier: CA355113709

Gene: BCHE

Linked Data

• gnomAD v4: 3-165831009-A-G
• MyVariant Identifiers: chr3:g.165548797A>G (hg19) ; chr3:g.165831009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831009A>G , CM000665.2:g.165831009A>G	GRCh38
NC_000003.11:g.165548797A>G , CM000665.1:g.165548797A>G	GRCh37
NC_000003.10:g.167031491A>G	NCBI36
NG_009031.1:g.11457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.25T>C MANE Select	ENSP00000264381.3:p.Cys9Arg
ENST00000264381.7:c.25T>C	ENSP00000264381.3:p.Cys9Arg
ENST00000479451.5:c.107+6305T>C	ENSP00000418325.1:n.107+6305T>C
ENST00000482958.1:c.25T>C	ENSP00000419804.1:p.Cys9Arg
ENST00000488954.1:c.107+6305T>C	ENSP00000418504.1:n.107+6305T>C
ENST00000497011.5:c.25T>C	ENSP00000419505.1:p.Cys9Arg
NM_000055.2:c.25T>C	NP_000046.1:p.Cys9Arg
XM_005247685.1:c.148T>C	XP_005247742.1:p.Cys50Arg
NM_000055.3:c.25T>C	NP_000046.1:p.Cys9Arg
NR_137635.1:n.159+6305T>C
NR_137636.1:n.192T>C
NM_000055.4:c.25T>C MANE Select	NP_000046.1:p.Cys9Arg
NR_137635.2:n.110+6305T>C
NR_137636.2:n.143T>C