Canonical Allele Identifier: CA354223393

Gene: ADCY5

Linked Data

• dbSNP Id: rs1406839255
• gnomAD v2: 3-123009995-G-A
• COSMIC: COSM3057034
• MyVariant Identifiers: chr3:g.123009995G>A (hg19) ; chr3:g.123291148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123291148G>A , CM000665.2:g.123291148G>A	GRCh38
NC_000003.11:g.123009995G>A , CM000665.1:g.123009995G>A	GRCh37
NC_000003.10:g.124492685G>A	NCBI36
NG_033882.1:g.162398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.1969C>T	ENSP00000420082.2:p.Arg657Trp
ENST00000470367.2:c.2257C>T	ENSP00000514541.1:p.Arg753Trp
ENST00000483566.2:c.1969C>T	ENSP00000420252.2:p.Arg657Trp
ENST00000699714.1:c.1969C>T	ENSP00000514539.1:p.Arg657Trp
ENST00000699715.1:c.1969C>T	ENSP00000514540.1:p.Arg657Trp
ENST00000699716.1:c.1969C>T	ENSP00000514542.1:p.Arg657Trp
ENST00000699717.1:n.1695C>T
ENST00000699718.1:c.3367C>T	ENSP00000514543.1:p.Arg1123Trp
ENST00000462833.6:c.3292C>T MANE Select	ENSP00000419361.1:p.Arg1098Trp
ENST00000309879.9:c.2242C>T	ENSP00000308685.5:p.Arg748Trp
ENST00000462833.5:c.3292C>T	ENSP00000419361.1:p.Arg1098Trp
ENST00000491190.5:c.2266C>T	ENSP00000418537.1:p.Arg756Trp
NM_001199642.1:c.2242C>T	NP_001186571.1:p.Arg748Trp
NM_183357.2:c.3292C>T	NP_899200.1:p.Arg1098Trp
XM_005247077.2:c.3367C>T	XP_005247134.1:p.Arg1123Trp
XM_005247078.1:c.2317C>T	XP_005247135.1:p.Arg773Trp
XM_006713483.1:c.2266C>T	XP_006713546.1:p.Arg756Trp
XM_006713484.1:c.2044C>T	XP_006713547.1:p.Arg682Trp
XM_011512359.1:c.2368C>T	XP_011510661.1:p.Arg790Trp
XM_011512360.1:c.2278C>T	XP_011510662.1:p.Arg760Trp
XM_011512361.1:c.2044C>T	XP_011510663.1:p.Arg682Trp
XM_005247077.4:c.3367C>T	XP_005247134.1:p.Arg1123Trp
XM_011512359.2:c.2368C>T	XP_011510661.1:p.Arg790Trp
XM_011512360.3:c.2278C>T	XP_011510662.1:p.Arg760Trp
XM_017005638.1:c.2269C>T	XP_016861127.1:p.Arg757Trp
XM_017005639.1:c.2269C>T	XP_016861128.1:p.Arg757Trp
NM_001378259.1:c.3367C>T	NP_001365188.1:p.Arg1123Trp
NM_183357.3:c.3292C>T MANE Select	NP_899200.1:p.Arg1098Trp