Canonical Allele Identifier: CA355113826

Gene: BCHE

Linked Data

• dbSNP Id: rs142859898
• gnomAD v2: 3-165491198-C-T
• gnomAD v4: 3-165773410-C-T
• MyVariant Identifiers: chr3:g.165491198C>T (hg19) ; chr3:g.165491198_165491203delinsTTAGTG (hg19) ; chr3:g.165773410C>T (hg38) ; chr3:g.165773410_165773415delinsTTAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773410C>T , CM000665.2:g.165773410C>T	GRCh38
NC_000003.11:g.165491198C>T , CM000665.1:g.165491198C>T	GRCh37
NC_000003.10:g.166973892C>T	NCBI36
NG_009031.1:g.69056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1781G>A MANE Select	ENSP00000264381.3:p.Ser594Asn
ENST00000264381.7:c.1781G>A	ENSP00000264381.3:p.Ser594Asn
ENST00000479451.5:c.371G>A	ENSP00000418325.1:p.Ser124Asn
ENST00000482958.1:c.*287G>A	ENSP00000419804.1:n.*287G>A
ENST00000497011.5:c.*171G>A	ENSP00000419505.1:n.*171G>A
NM_000055.2:c.1781G>A	NP_000046.1:p.Ser594Asn
XM_005247685.1:c.1904G>A	XP_005247742.1:p.Ser635Asn
NM_000055.3:c.1781G>A	NP_000046.1:p.Ser594Asn
NR_137635.1:n.423G>A
NR_137636.1:n.2027G>A
NM_000055.4:c.1781G>A MANE Select	NP_000046.1:p.Ser594Asn
NR_137635.2:n.374G>A
NR_137636.2:n.1978G>A