Canonical Allele Identifier: CA346062547

Gene: ADCY3

Linked Data

• MyVariant Identifiers: chr2:g.25046107G>T (hg19) ; chr2:g.24823238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823238G>T , CM000664.2:g.24823238G>T	GRCh38
NC_000002.11:g.25046107G>T , CM000664.1:g.25046107G>T	GRCh37
NC_000002.10:g.24899611G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2857C>A	ENSP00000384484.2:p.Leu953Ile
ENST00000679454.1:c.2854C>A MANE Select	ENSP00000505261.1:p.Leu952Ile
ENST00000260600.9:c.2854C>A	ENSP00000260600.5:p.Leu952Ile
ENST00000405392.5:c.2857C>A	ENSP00000384484.2:p.Leu953Ile
ENST00000485887.1:n.126C>A
ENST00000606682.5:c.1795C>A	ENSP00000475652.1:p.Leu599Ile
NM_004036.3:c.2854C>A	NP_004027.2:p.Leu952Ile
XM_005264104.1:c.2857C>A	XP_005264161.1:p.Leu953Ile
XM_005264105.1:c.2854C>A	XP_005264162.1:p.Leu952Ile
XM_006711925.1:c.2923C>A	XP_006711988.1:p.Leu975Ile
XM_011532489.1:c.2980C>A	XP_011530791.1:p.Leu994Ile
XM_011532490.1:c.2977C>A	XP_011530792.1:p.Leu993Ile
XM_011532491.1:c.2914C>A	XP_011530793.1:p.Leu972Ile
XM_011532492.1:c.2980C>A	XP_011530794.1:p.Leu994Ile
XM_011532493.1:c.2842C>A	XP_011530795.1:p.Leu948Ile
XM_011532494.1:c.2782C>A	XP_011530796.1:p.Leu928Ile
XM_011532495.1:c.2314C>A	XP_011530797.1:p.Leu772Ile
XM_011532496.1:c.2257C>A	XP_011530798.1:p.Leu753Ile
NM_001320613.1:c.2857C>A	NP_001307542.1:p.Leu953Ile
NM_004036.4:c.2854C>A	NP_004027.2:p.Leu952Ile
XM_011532492.2:c.2980C>A	XP_011530794.1:p.Leu994Ile
XM_017003186.1:c.2920C>A	XP_016858675.1:p.Leu974Ile
XM_017003187.1:c.2911C>A	XP_016858676.1:p.Leu971Ile
XM_017003188.1:c.2977C>A	XP_016858677.1:p.Leu993Ile
XM_017003189.1:c.2839C>A	XP_016858678.1:p.Leu947Ile
XM_017003190.1:c.2716C>A	XP_016858679.1:p.Leu906Ile
XM_017003191.1:c.2344C>A	XP_016858680.1:p.Leu782Ile
XM_017003192.1:c.2134C>A	XP_016858681.1:p.Leu712Ile
XM_017003193.1:c.2131C>A	XP_016858682.1:p.Leu711Ile
NM_001320613.2:c.2857C>A	NP_001307542.1:p.Leu953Ile
NM_001377128.1:c.2920C>A	NP_001364057.1:p.Leu974Ile
NM_001377129.1:c.2716C>A	NP_001364058.1:p.Leu906Ile
NM_001377130.1:c.2332-608C>A	NP_001364059.1:n.2332-608C>A
NM_001377131.1:c.2131C>A	NP_001364060.1:p.Leu711Ile
NM_001377132.1:c.2854C>A	NP_001364061.1:p.Leu952Ile
NM_004036.5:c.2854C>A MANE Select	NP_004027.2:p.Leu952Ile