Canonical Allele Identifier: CA346061540

Gene: ADCY3

Linked Data

• gnomAD v4: 2-24918429-G-A
• COSMIC: COSM5415017
• MyVariant Identifiers: chr2:g.25141298G>A (hg19) ; chr2:g.24918429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24918429G>A , CM000664.2:g.24918429G>A	GRCh38
NC_000002.11:g.25141298G>A , CM000664.1:g.25141298G>A	GRCh37
NC_000002.10:g.24994802G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.559C>T	ENSP00000384484.2:p.Leu187Phe
ENST00000679454.1:c.559C>T MANE Select	ENSP00000505261.1:p.Leu187Phe
ENST00000260600.9:c.559C>T	ENSP00000260600.5:p.Leu187Phe
ENST00000405392.5:c.559C>T	ENSP00000384484.2:p.Leu187Phe
ENST00000435135.5:c.559C>T	ENSP00000389799.1:p.Leu187Phe
NM_004036.3:c.559C>T	NP_004027.2:p.Leu187Phe
XM_005264104.1:c.559C>T	XP_005264161.1:p.Leu187Phe
XM_005264105.1:c.559C>T	XP_005264162.1:p.Leu187Phe
XM_006711925.1:c.559C>T	XP_006711988.1:p.Leu187Phe
XM_011532489.1:c.559C>T	XP_011530791.1:p.Leu187Phe
XM_011532490.1:c.559C>T	XP_011530792.1:p.Leu187Phe
XM_011532491.1:c.559C>T	XP_011530793.1:p.Leu187Phe
XM_011532492.1:c.559C>T	XP_011530794.1:p.Leu187Phe
XM_011532493.1:c.559C>T	XP_011530795.1:p.Leu187Phe
XM_011532494.1:c.559C>T	XP_011530796.1:p.Leu187Phe
NM_001320613.1:c.559C>T	NP_001307542.1:p.Leu187Phe
NM_004036.4:c.559C>T	NP_004027.2:p.Leu187Phe
XM_011532492.2:c.559C>T	XP_011530794.1:p.Leu187Phe
XM_017003186.1:c.559C>T	XP_016858675.1:p.Leu187Phe
XM_017003187.1:c.559C>T	XP_016858676.1:p.Leu187Phe
XM_017003188.1:c.559C>T	XP_016858677.1:p.Leu187Phe
XM_017003189.1:c.559C>T	XP_016858678.1:p.Leu187Phe
XM_017003190.1:c.559C>T	XP_016858679.1:p.Leu187Phe
NM_001320613.2:c.559C>T	NP_001307542.1:p.Leu187Phe
NM_001377128.1:c.559C>T	NP_001364057.1:p.Leu187Phe
NM_001377129.1:c.559C>T	NP_001364058.1:p.Leu187Phe
NM_001377130.1:c.559C>T	NP_001364059.1:p.Leu187Phe
NM_001377132.1:c.559C>T	NP_001364061.1:p.Leu187Phe
NM_004036.5:c.559C>T MANE Select	NP_004027.2:p.Leu187Phe