Canonical Allele Identifier: CA354222016

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123284676-C-A
• MyVariant Identifiers: chr3:g.123003523C>A (hg19) ; chr3:g.123284676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284676C>A , CM000665.2:g.123284676C>A	GRCh38
NC_000003.11:g.123003523C>A , CM000665.1:g.123003523C>A	GRCh37
NC_000003.10:g.124486213C>A	NCBI36
NG_033882.1:g.168870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2395G>T	ENSP00000420082.2:p.Val799Leu
ENST00000470367.2:c.2683G>T	ENSP00000514541.1:p.Val895Leu
ENST00000483566.2:c.2395G>T	ENSP00000420252.2:p.Val799Leu
ENST00000699714.1:c.2395G>T	ENSP00000514539.1:p.Val799Leu
ENST00000699715.1:c.2395G>T	ENSP00000514540.1:p.Val799Leu
ENST00000699716.1:c.2395G>T	ENSP00000514542.1:p.Val799Leu
ENST00000699717.1:n.2121G>T
ENST00000699718.1:c.3793G>T	ENSP00000514543.1:p.Val1265Leu
ENST00000462833.6:c.3718G>T MANE Select	ENSP00000419361.1:p.Val1240Leu
ENST00000309879.9:c.2668G>T	ENSP00000308685.5:p.Val890Leu
ENST00000462833.5:c.3718G>T	ENSP00000419361.1:p.Val1240Leu
ENST00000478092.1:n.488G>T
ENST00000491190.5:c.2692G>T	ENSP00000418537.1:p.Val898Leu
NM_001199642.1:c.2668G>T	NP_001186571.1:p.Val890Leu
NM_183357.2:c.3718G>T	NP_899200.1:p.Val1240Leu
XM_005247077.2:c.3793G>T	XP_005247134.1:p.Val1265Leu
XM_005247078.1:c.2743G>T	XP_005247135.1:p.Val915Leu
XM_006713483.1:c.2692G>T	XP_006713546.1:p.Val898Leu
XM_006713484.1:c.2470G>T	XP_006713547.1:p.Val824Leu
XM_011512359.1:c.2794G>T	XP_011510661.1:p.Val932Leu
XM_011512360.1:c.2704G>T	XP_011510662.1:p.Val902Leu
XM_011512361.1:c.2470G>T	XP_011510663.1:p.Val824Leu
XM_005247077.4:c.3793G>T	XP_005247134.1:p.Val1265Leu
XM_011512359.2:c.2794G>T	XP_011510661.1:p.Val932Leu
XM_011512360.3:c.2704G>T	XP_011510662.1:p.Val902Leu
XM_017005638.1:c.2695G>T	XP_016861127.1:p.Val899Leu
XM_017005639.1:c.2695G>T	XP_016861128.1:p.Val899Leu
NM_001378259.1:c.3793G>T	NP_001365188.1:p.Val1265Leu
NM_183357.3:c.3718G>T MANE Select	NP_899200.1:p.Val1240Leu