Canonical Allele Identifier: CA2692258

Gene: BCHE

Linked Data

• ClinVar Variation Id: 555346
• ClinVar RCV Id: RCV000671148
• dbSNP Id: rs760485585
• ExAC: 3:165504033 A / T
• gnomAD v2: 3-165504033-A-T
• gnomAD v3: 3-165786245-A-T
• gnomAD v4: 3-165786245-A-T
• MyVariant Identifiers: chr3:g.165504033A>T (hg19) ; chr3:g.165786245A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786245A>T , CM000665.2:g.165786245A>T	GRCh38
NC_000003.11:g.165504033A>T , CM000665.1:g.165504033A>T	GRCh37
NC_000003.10:g.166986727A>T	NCBI36
NG_009031.1:g.56221T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1584T>A MANE Select	ENSP00000264381.3:p.Tyr528Ter
ENST00000264381.7:c.1584T>A	ENSP00000264381.3:p.Tyr528Ter
ENST00000479451.5:c.174T>A	ENSP00000418325.1:p.Tyr58Ter
ENST00000482958.1:c.*90T>A	ENSP00000419804.1:n.*90T>A
ENST00000488954.1:c.174T>A	ENSP00000418504.1:p.Tyr58Ter
ENST00000497011.5:c.1584T>A	ENSP00000419505.1:p.Tyr528Ter
NM_000055.2:c.1584T>A	NP_000046.1:p.Tyr528Ter
XM_005247685.1:c.1707T>A	XP_005247742.1:p.Tyr569Ter
NM_000055.3:c.1584T>A	NP_000046.1:p.Tyr528Ter
NR_137635.1:n.226T>A
NR_137636.1:n.1751T>A
NM_000055.4:c.1584T>A MANE Select	NP_000046.1:p.Tyr528Ter
NR_137635.2:n.177T>A
NR_137636.2:n.1702T>A