Canonical Allele Identifier: CA2692207

Gene: BCHE

Linked Data

• dbSNP Id: rs114166903
• ExAC: 3:165491288 A / G
• gnomAD v2: 3-165491288-A-G
• gnomAD v3: 3-165773500-A-G
• gnomAD v4: 3-165773500-A-G
• MyVariant Identifiers: chr3:g.165491288A>G (hg19) ; chr3:g.165773500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773500A>G , CM000665.2:g.165773500A>G	GRCh38
NC_000003.11:g.165491288A>G , CM000665.1:g.165491288A>G	GRCh37
NC_000003.10:g.166973982A>G	NCBI36
NG_009031.1:g.68966T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1691T>C MANE Select	ENSP00000264381.3:p.Ile564Thr
ENST00000264381.7:c.1691T>C	ENSP00000264381.3:p.Ile564Thr
ENST00000479451.5:c.281T>C	ENSP00000418325.1:p.Ile94Thr
ENST00000482958.1:c.*197T>C	ENSP00000419804.1:n.*197T>C
ENST00000497011.5:c.*81T>C	ENSP00000419505.1:n.*81T>C
NM_000055.2:c.1691T>C	NP_000046.1:p.Ile564Thr
XM_005247685.1:c.1814T>C	XP_005247742.1:p.Ile605Thr
NM_000055.3:c.1691T>C	NP_000046.1:p.Ile564Thr
NR_137635.1:n.333T>C
NR_137636.1:n.1937T>C
NM_000055.4:c.1691T>C MANE Select	NP_000046.1:p.Ile564Thr
NR_137635.2:n.284T>C
NR_137636.2:n.1888T>C