Canonical Allele Identifier: CA346062572

Gene: ADCY3

Linked Data

• MyVariant Identifiers: chr2:g.25046115A>G (hg19) ; chr2:g.24823246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823246A>G , CM000664.2:g.24823246A>G	GRCh38
NC_000002.11:g.25046115A>G , CM000664.1:g.25046115A>G	GRCh37
NC_000002.10:g.24899619A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2849T>C	ENSP00000384484.2:p.Leu950Pro
ENST00000679454.1:c.2846T>C MANE Select	ENSP00000505261.1:p.Leu949Pro
ENST00000260600.9:c.2846T>C	ENSP00000260600.5:p.Leu949Pro
ENST00000405392.5:c.2849T>C	ENSP00000384484.2:p.Leu950Pro
ENST00000485887.1:n.118T>C
ENST00000606682.5:c.1787T>C	ENSP00000475652.1:p.Leu596Pro
NM_004036.3:c.2846T>C	NP_004027.2:p.Leu949Pro
XM_005264104.1:c.2849T>C	XP_005264161.1:p.Leu950Pro
XM_005264105.1:c.2846T>C	XP_005264162.1:p.Leu949Pro
XM_006711925.1:c.2915T>C	XP_006711988.1:p.Leu972Pro
XM_011532489.1:c.2972T>C	XP_011530791.1:p.Leu991Pro
XM_011532490.1:c.2969T>C	XP_011530792.1:p.Leu990Pro
XM_011532491.1:c.2906T>C	XP_011530793.1:p.Leu969Pro
XM_011532492.1:c.2972T>C	XP_011530794.1:p.Leu991Pro
XM_011532493.1:c.2834T>C	XP_011530795.1:p.Leu945Pro
XM_011532494.1:c.2774T>C	XP_011530796.1:p.Leu925Pro
XM_011532495.1:c.2306T>C	XP_011530797.1:p.Leu769Pro
XM_011532496.1:c.2249T>C	XP_011530798.1:p.Leu750Pro
NM_001320613.1:c.2849T>C	NP_001307542.1:p.Leu950Pro
NM_004036.4:c.2846T>C	NP_004027.2:p.Leu949Pro
XM_011532492.2:c.2972T>C	XP_011530794.1:p.Leu991Pro
XM_017003186.1:c.2912T>C	XP_016858675.1:p.Leu971Pro
XM_017003187.1:c.2903T>C	XP_016858676.1:p.Leu968Pro
XM_017003188.1:c.2969T>C	XP_016858677.1:p.Leu990Pro
XM_017003189.1:c.2831T>C	XP_016858678.1:p.Leu944Pro
XM_017003190.1:c.2708T>C	XP_016858679.1:p.Leu903Pro
XM_017003191.1:c.2336T>C	XP_016858680.1:p.Leu779Pro
XM_017003192.1:c.2126T>C	XP_016858681.1:p.Leu709Pro
XM_017003193.1:c.2123T>C	XP_016858682.1:p.Leu708Pro
NM_001320613.2:c.2849T>C	NP_001307542.1:p.Leu950Pro
NM_001377128.1:c.2912T>C	NP_001364057.1:p.Leu971Pro
NM_001377129.1:c.2708T>C	NP_001364058.1:p.Leu903Pro
NM_001377130.1:c.2332-616T>C	NP_001364059.1:n.2332-616T>C
NM_001377131.1:c.2123T>C	NP_001364060.1:p.Leu708Pro
NM_001377132.1:c.2846T>C	NP_001364061.1:p.Leu949Pro
NM_004036.5:c.2846T>C MANE Select	NP_004027.2:p.Leu949Pro