Canonical Allele Identifier: CA2692567

Gene: BCHE

Linked Data

• ClinVar Variation Id: 2353804
• ClinVar RCV Id: RCV002969462
• dbSNP Id: rs781642185
• ExAC: 3:165548709 T / C
• gnomAD v2: 3-165548709-T-C
• gnomAD v4: 3-165830921-T-C
• MyVariant Identifiers: chr3:g.165548709T>C (hg19) ; chr3:g.165830921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830921T>C , CM000665.2:g.165830921T>C	GRCh38
NC_000003.11:g.165548709T>C , CM000665.1:g.165548709T>C	GRCh37
NC_000003.10:g.167031403T>C	NCBI36
NG_009031.1:g.11545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.113A>G MANE Select	ENSP00000264381.3:p.Asn38Ser
ENST00000264381.7:c.113A>G	ENSP00000264381.3:p.Asn38Ser
ENST00000479451.5:c.107+6393A>G	ENSP00000418325.1:n.107+6393A>G
ENST00000482958.1:c.113A>G	ENSP00000419804.1:p.Asn38Ser
ENST00000488954.1:c.107+6393A>G	ENSP00000418504.1:n.107+6393A>G
ENST00000497011.5:c.113A>G	ENSP00000419505.1:p.Asn38Ser
NM_000055.2:c.113A>G	NP_000046.1:p.Asn38Ser
XM_005247685.1:c.236A>G	XP_005247742.1:p.Asn79Ser
NM_000055.3:c.113A>G	NP_000046.1:p.Asn38Ser
NR_137635.1:n.159+6393A>G
NR_137636.1:n.280A>G
NM_000055.4:c.113A>G MANE Select	NP_000046.1:p.Asn38Ser
NR_137635.2:n.110+6393A>G
NR_137636.2:n.231A>G