Canonical Allele Identifier: CA3059963
Gene: SEPTIN7P14 HGNC NCBI
PDE5A HGNC NCBI

Linked Data

dbSNP Id: rs149385790

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119501252T>G , CM000666.2:g.119501252T>G GRCh38
NC_000004.11:g.120422407T>G , CM000666.1:g.120422407T>G GRCh37
NC_000004.10:g.120641855T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000508519.6:n.931+6729T>G (SEPTIN7P14)
ENST00000685525.1:n.1042+3349T>G (SEPTIN7P14)
ENST00000685974.1:n.939+3349T>G (SEPTIN7P14)
ENST00000686202.1:n.892+6729T>G (SEPTIN7P14)
ENST00000688315.1:n.1003+3349T>G (SEPTIN7P14)
ENST00000688480.1:n.998+3349T>G (SEPTIN7P14)
ENST00000690731.1:n.939+3349T>G (SEPTIN7P14)
ENST00000692409.1:n.939+3349T>G (SEPTIN7P14)
ENST00000692642.1:n.1012+3349T>G (SEPTIN7P14)
ENST00000692945.1:n.984+3349T>G (SEPTIN7P14)
ENST00000354960.8:c.2408A>C (PDE5A) MANE Select ENSP00000347046.3:p.Asp803Ala
ENST00000264805.9:c.2282A>C (PDE5A) ENSP00000264805.5:p.Asp761Ala
ENST00000354960.7:c.2408A>C (PDE5A) ENSP00000347046.3:p.Asp803Ala
ENST00000394439.5:c.2252A>C (PDE5A) ENSP00000377957.1:p.Asp751Ala
ENST00000498873.5:n.364+3349T>G (SEPTIN7P14)
ENST00000503412.1:c.463A>C (PDE5A)
ENST00000510844.5:n.191+3349T>G (SEPTIN7P14)
NM_001083.3:c.2408A>C (PDE5A) NP_001074.2:p.Asp803Ala
NM_033430.2:c.2282A>C (PDE5A) NP_236914.2:p.Asp761Ala
NM_033437.3:c.2252A>C (PDE5A) NP_246273.2:p.Asp751Ala
NM_001083.4:c.2408A>C (PDE5A) MANE Select NP_001074.2:p.Asp803Ala
NM_033430.3:c.2282A>C (PDE5A) NP_236914.2:p.Asp761Ala
NM_033437.4:c.2252A>C (PDE5A) NP_246273.2:p.Asp751Ala