Canonical Allele Identifier: CA425172005

Gene: ADCY3

Linked Data

• gnomAD v4: 2-24823307-G-A
• MyVariant Identifiers: chr2:g.25046176G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823307G>A , CM000664.2:g.24823307G>A	GRCh38
NC_000002.11:g.25046176G>A , CM000664.1:g.25046176G>A	GRCh37
NC_000002.10:g.24899680G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2788C>T	ENSP00000384484.2:p.Leu930=
ENST00000679454.1:c.2785C>T MANE Select	ENSP00000505261.1:p.Leu929=
ENST00000260600.9:c.2785C>T	ENSP00000260600.5:p.Leu929=
ENST00000405392.5:c.2788C>T	ENSP00000384484.2:p.Leu930=
ENST00000485887.1:n.57C>T
ENST00000606682.5:c.1726C>T	ENSP00000475652.1:p.Leu576=
NM_004036.3:c.2785C>T	NP_004027.2:p.Leu929=
XM_005264104.1:c.2788C>T	XP_005264161.1:p.Leu930=
XM_005264105.1:c.2785C>T	XP_005264162.1:p.Leu929=
XM_006711925.1:c.2854C>T	XP_006711988.1:p.Leu952=
XM_011532489.1:c.2911C>T	XP_011530791.1:p.Leu971=
XM_011532490.1:c.2908C>T	XP_011530792.1:p.Leu970=
XM_011532491.1:c.2845C>T	XP_011530793.1:p.Leu949=
XM_011532492.1:c.2911C>T	XP_011530794.1:p.Leu971=
XM_011532493.1:c.2773C>T	XP_011530795.1:p.Leu925=
XM_011532494.1:c.2713C>T	XP_011530796.1:p.Leu905=
XM_011532495.1:c.2245C>T	XP_011530797.1:p.Leu749=
XM_011532496.1:c.2188C>T	XP_011530798.1:p.Leu730=
NM_001320613.1:c.2788C>T	NP_001307542.1:p.Leu930=
NM_004036.4:c.2785C>T	NP_004027.2:p.Leu929=
XM_011532492.2:c.2911C>T	XP_011530794.1:p.Leu971=
XM_017003186.1:c.2851C>T	XP_016858675.1:p.Leu951=
XM_017003187.1:c.2842C>T	XP_016858676.1:p.Leu948=
XM_017003188.1:c.2908C>T	XP_016858677.1:p.Leu970=
XM_017003189.1:c.2770C>T	XP_016858678.1:p.Leu924=
XM_017003190.1:c.2647C>T	XP_016858679.1:p.Leu883=
XM_017003191.1:c.2275C>T	XP_016858680.1:p.Leu759=
XM_017003192.1:c.2065C>T	XP_016858681.1:p.Leu689=
XM_017003193.1:c.2062C>T	XP_016858682.1:p.Leu688=
NM_001320613.2:c.2788C>T	NP_001307542.1:p.Leu930=
NM_001377128.1:c.2851C>T	NP_001364057.1:p.Leu951=
NM_001377129.1:c.2647C>T	NP_001364058.1:p.Leu883=
NM_001377130.1:c.2332-677C>T	NP_001364059.1:n.2332-677C>T
NM_001377131.1:c.2062C>T	NP_001364060.1:p.Leu688=
NM_001377132.1:c.2785C>T	NP_001364061.1:p.Leu929=
NM_004036.5:c.2785C>T MANE Select	NP_004027.2:p.Leu929=