Canonical Allele Identifier: CA1553650

Gene: ADCY3

Linked Data

• ClinVar Variation Id: 2629445
• ClinVar RCV Id: RCV003414201
• dbSNP Id: rs769120427
• ExAC: 2:25047318 C / T
• gnomAD v2: 2-25047318-C-T
• gnomAD v3: 2-24824449-C-T
• gnomAD v4: 2-24824449-C-T
• MyVariant Identifiers: chr2:g.25047318C>T (hg19) ; chr2:g.24824449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24824449C>T , CM000664.2:g.24824449C>T	GRCh38
NC_000002.11:g.25047318C>T , CM000664.1:g.25047318C>T	GRCh37
NC_000002.10:g.24900822C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000405392.6:c.2668G>A	ENSP00000384484.2:p.Glu890Lys
ENST00000679454.1:c.2665G>A MANE Select	ENSP00000505261.1:p.Glu889Lys
ENST00000260600.9:c.2665G>A	ENSP00000260600.5:p.Glu889Lys
ENST00000405392.5:c.2668G>A	ENSP00000384484.2:p.Glu890Lys
ENST00000606682.5:c.1606G>A	ENSP00000475652.1:p.Glu536Lys
NM_004036.3:c.2665G>A	NP_004027.2:p.Glu889Lys
XM_005264104.1:c.2668G>A	XP_005264161.1:p.Glu890Lys
XM_005264105.1:c.2665G>A	XP_005264162.1:p.Glu889Lys
XM_006711925.1:c.2734G>A	XP_006711988.1:p.Glu912Lys
XM_011532489.1:c.2791G>A	XP_011530791.1:p.Glu931Lys
XM_011532490.1:c.2788G>A	XP_011530792.1:p.Glu930Lys
XM_011532491.1:c.2725G>A	XP_011530793.1:p.Glu909Lys
XM_011532492.1:c.2791G>A	XP_011530794.1:p.Glu931Lys
XM_011532493.1:c.2653G>A	XP_011530795.1:p.Glu885Lys
XM_011532494.1:c.2593G>A	XP_011530796.1:p.Glu865Lys
XM_011532495.1:c.2125G>A	XP_011530797.1:p.Glu709Lys
XM_011532496.1:c.2068G>A	XP_011530798.1:p.Glu690Lys
NM_001320613.1:c.2668G>A	NP_001307542.1:p.Glu890Lys
NM_004036.4:c.2665G>A	NP_004027.2:p.Glu889Lys
XM_011532492.2:c.2791G>A	XP_011530794.1:p.Glu931Lys
XM_017003186.1:c.2731G>A	XP_016858675.1:p.Glu911Lys
XM_017003187.1:c.2722G>A	XP_016858676.1:p.Glu908Lys
XM_017003188.1:c.2788G>A	XP_016858677.1:p.Glu930Lys
XM_017003189.1:c.2650G>A	XP_016858678.1:p.Glu884Lys
XM_017003190.1:c.2527G>A	XP_016858679.1:p.Glu843Lys
XM_017003191.1:c.2155G>A	XP_016858680.1:p.Glu719Lys
XM_017003192.1:c.1945G>A	XP_016858681.1:p.Glu649Lys
XM_017003193.1:c.1942G>A	XP_016858682.1:p.Glu648Lys
NM_001320613.2:c.2668G>A	NP_001307542.1:p.Glu890Lys
NM_001377128.1:c.2731G>A	NP_001364057.1:p.Glu911Lys
NM_001377129.1:c.2527G>A	NP_001364058.1:p.Glu843Lys
NM_001377130.1:c.2260G>A	NP_001364059.1:p.Glu754Lys
NM_001377131.1:c.1942G>A	NP_001364060.1:p.Glu648Lys
NM_001377132.1:c.2665G>A	NP_001364061.1:p.Glu889Lys
NM_004036.5:c.2665G>A MANE Select	NP_004027.2:p.Glu889Lys