Canonical Allele Identifier: CA346062559

Gene: ADCY3

Linked Data

• MyVariant Identifiers: chr2:g.25046112C>A (hg19) ; chr2:g.24823243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823243C>A , CM000664.2:g.24823243C>A	GRCh38
NC_000002.11:g.25046112C>A , CM000664.1:g.25046112C>A	GRCh37
NC_000002.10:g.24899616C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000405392.6:c.2852G>T	ENSP00000384484.2:p.Arg951Leu
ENST00000679454.1:c.2849G>T MANE Select	ENSP00000505261.1:p.Arg950Leu
ENST00000260600.9:c.2849G>T	ENSP00000260600.5:p.Arg950Leu
ENST00000405392.5:c.2852G>T	ENSP00000384484.2:p.Arg951Leu
ENST00000485887.1:n.121G>T
ENST00000606682.5:c.1790G>T	ENSP00000475652.1:p.Arg597Leu
NM_004036.3:c.2849G>T	NP_004027.2:p.Arg950Leu
XM_005264104.1:c.2852G>T	XP_005264161.1:p.Arg951Leu
XM_005264105.1:c.2849G>T	XP_005264162.1:p.Arg950Leu
XM_006711925.1:c.2918G>T	XP_006711988.1:p.Arg973Leu
XM_011532489.1:c.2975G>T	XP_011530791.1:p.Arg992Leu
XM_011532490.1:c.2972G>T	XP_011530792.1:p.Arg991Leu
XM_011532491.1:c.2909G>T	XP_011530793.1:p.Arg970Leu
XM_011532492.1:c.2975G>T	XP_011530794.1:p.Arg992Leu
XM_011532493.1:c.2837G>T	XP_011530795.1:p.Arg946Leu
XM_011532494.1:c.2777G>T	XP_011530796.1:p.Arg926Leu
XM_011532495.1:c.2309G>T	XP_011530797.1:p.Arg770Leu
XM_011532496.1:c.2252G>T	XP_011530798.1:p.Arg751Leu
NM_001320613.1:c.2852G>T	NP_001307542.1:p.Arg951Leu
NM_004036.4:c.2849G>T	NP_004027.2:p.Arg950Leu
XM_011532492.2:c.2975G>T	XP_011530794.1:p.Arg992Leu
XM_017003186.1:c.2915G>T	XP_016858675.1:p.Arg972Leu
XM_017003187.1:c.2906G>T	XP_016858676.1:p.Arg969Leu
XM_017003188.1:c.2972G>T	XP_016858677.1:p.Arg991Leu
XM_017003189.1:c.2834G>T	XP_016858678.1:p.Arg945Leu
XM_017003190.1:c.2711G>T	XP_016858679.1:p.Arg904Leu
XM_017003191.1:c.2339G>T	XP_016858680.1:p.Arg780Leu
XM_017003192.1:c.2129G>T	XP_016858681.1:p.Arg710Leu
XM_017003193.1:c.2126G>T	XP_016858682.1:p.Arg709Leu
NM_001320613.2:c.2852G>T	NP_001307542.1:p.Arg951Leu
NM_001377128.1:c.2915G>T	NP_001364057.1:p.Arg972Leu
NM_001377129.1:c.2711G>T	NP_001364058.1:p.Arg904Leu
NM_001377130.1:c.2332-613G>T	NP_001364059.1:n.2332-613G>T
NM_001377131.1:c.2126G>T	NP_001364060.1:p.Arg709Leu
NM_001377132.1:c.2849G>T	NP_001364061.1:p.Arg950Leu
NM_004036.5:c.2849G>T MANE Select	NP_004027.2:p.Arg950Leu