Canonical Allele Identifier: CA1227326

Gene: ADCY10

Linked Data

• ClinVar Variation Id: 402343
• ClinVar RCV Id: RCV000456041 ; RCV000946521
• dbSNP Id: rs116510137
• ExAC: 1:167802276 T / C
• gnomAD v2: 1-167802276-T-C
• gnomAD v3: 1-167833038-T-C
• gnomAD v4: 1-167833038-T-C
• MyVariant Identifiers: chr1:g.167802276T>C (hg19) ; chr1:g.167833038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167833038T>C , CM000663.2:g.167833038T>C	GRCh38
NC_000001.10:g.167802276T>C , CM000663.1:g.167802276T>C	GRCh37
NC_000001.9:g.166068900T>C	NCBI36
NG_016139.1:g.86178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367851.9:c.3542A>G MANE Select	ENSP00000356825.4:p.Asn1181Ser
ENST00000367848.1:c.3266A>G	ENSP00000356822.1:p.Asn1089Ser
ENST00000367851.8:c.3542A>G	ENSP00000356825.4:p.Asn1181Ser
ENST00000485964.5:c.1180A>G
ENST00000545172.5:c.3083A>G	ENSP00000441992.1:p.Asn1028Ser
NM_001167749.2:c.3083A>G	NP_001161221.1:p.Asn1028Ser
NM_001297772.1:c.3266A>G	NP_001284701.1:p.Asn1089Ser
NM_018417.5:c.3542A>G	NP_060887.2:p.Asn1181Ser
XM_005245330.3:c.3542A>G	XP_005245387.1:p.Asn1181Ser
XM_006711449.2:c.3542A>G	XP_006711512.1:p.Asn1181Ser
XM_011509760.1:c.3542A>G	XP_011508062.1:p.Asn1181Ser
XM_011509761.1:c.3437A>G	XP_011508063.1:p.Asn1146Ser
XM_011509762.1:c.3398A>G	XP_011508064.1:p.Asn1133Ser
XM_011509763.1:c.3537A>G	XP_011508065.1:p.Lys1179=
XM_011509764.1:c.3293A>G	XP_011508066.1:p.Asn1098Ser
XM_011509765.1:c.3266A>G	XP_011508067.1:p.Asn1089Ser
XR_921889.1:n.5151A>G
XM_005245330.5:c.3542A>G	XP_005245387.1:p.Asn1181Ser
XM_006711449.4:c.3542A>G	XP_006711512.1:p.Asn1181Ser
XM_011509760.3:c.3542A>G	XP_011508062.1:p.Asn1181Ser
XM_011509762.3:c.3398A>G	XP_011508064.1:p.Asn1133Ser
XM_011509763.3:c.3537A>G	XP_011508065.1:p.Lys1179=
XM_017001778.2:c.3537A>G	XP_016857267.1:p.Lys1179=
XR_921889.3:n.6014A>G
NM_001167749.3:c.3083A>G	NP_001161221.1:p.Asn1028Ser
NM_001297772.2:c.3266A>G	NP_001284701.1:p.Asn1089Ser
NM_018417.6:c.3542A>G MANE Select	NP_060887.2:p.Asn1181Ser