Canonical Allele Identifier: CA10617957

Gene: BCHE

Linked Data

• ClinVar Variation Id: 344085
• ClinVar RCV Id: RCV000389298
• dbSNP Id: rs145327297
• gnomAD v2: 3-165491031-A-T
• gnomAD v3: 3-165773243-A-T
• gnomAD v4: 3-165773243-A-T
• MyVariant Identifiers: chr3:g.165491031A>T (hg19) ; chr3:g.165773243A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773243A>T , CM000665.2:g.165773243A>T	GRCh38
NC_000003.11:g.165491031A>T , CM000665.1:g.165491031A>T	GRCh37
NC_000003.10:g.166973725A>T	NCBI36
NG_009031.1:g.69223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*139T>A MANE Select	ENSP00000264381.3:n.*139T>A
ENST00000264381.7:c.*139T>A	ENSP00000264381.3:n.*139T>A
ENST00000479451.5:c.538T>A	ENSP00000418325.1:n.538T>A
ENST00000482958.1:c.*454T>A	ENSP00000419804.1:n.*454T>A
ENST00000497011.5:c.*338T>A	ENSP00000419505.1:n.*338T>A
NM_000055.2:c.*139T>A	NP_000046.1:n.*139T>A
XM_005247685.1:c.*139T>A	XP_005247742.1:n.*139T>A
NM_000055.3:c.*139T>A	NP_000046.1:n.*139T>A
NR_137635.1:n.590T>A
NR_137636.1:n.2194T>A
NM_000055.4:c.*139T>A MANE Select	NP_000046.1:n.*139T>A
NR_137635.2:n.541T>A
NR_137636.2:n.2145T>A