Canonical Allele Identifier: CA2739847200

Gene: SEPTIN7P14 PDE5A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119501161T>G , CM000666.2:g.119501161T>G	GRCh38
NC_000004.11:g.120422316T>G , CM000666.1:g.120422316T>G	GRCh37
NC_000004.10:g.120641764T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000508519.6:n.931+6638T>G (SEPTIN7P14)
ENST00000685525.1:n.1042+3258T>G (SEPTIN7P14)
ENST00000685974.1:n.939+3258T>G (SEPTIN7P14)
ENST00000686202.1:n.892+6638T>G (SEPTIN7P14)
ENST00000688315.1:n.1003+3258T>G (SEPTIN7P14)
ENST00000688480.1:n.998+3258T>G (SEPTIN7P14)
ENST00000690731.1:n.939+3258T>G (SEPTIN7P14)
ENST00000692409.1:n.939+3258T>G (SEPTIN7P14)
ENST00000692642.1:n.1012+3258T>G (SEPTIN7P14)
ENST00000692945.1:n.984+3258T>G (SEPTIN7P14)
ENST00000354960.8:c.2490+9A>C (PDE5A) MANE Select	ENSP00000347046.3:n.2490+9A>C
ENST00000264805.9:c.2364+9A>C (PDE5A)	ENSP00000264805.5:n.2364+9A>C
ENST00000354960.7:c.2490+9A>C (PDE5A)	ENSP00000347046.3:n.2490+9A>C
ENST00000394439.5:c.2334+9A>C (PDE5A)	ENSP00000377957.1:n.2334+9A>C
ENST00000498873.5:n.364+3258T>G (SEPTIN7P14)
ENST00000503412.1:c.554A>C (PDE5A)
ENST00000510844.5:n.191+3258T>G (SEPTIN7P14)
NM_001083.3:c.2490+9A>C (PDE5A)	NP_001074.2:n.2490+9A>C
NM_033430.2:c.2364+9A>C (PDE5A)	NP_236914.2:n.2364+9A>C
NM_033437.3:c.2334+9A>C (PDE5A)	NP_246273.2:n.2334+9A>C
NM_001083.4:c.2490+9A>C (PDE5A) MANE Select	NP_001074.2:n.2490+9A>C
NM_033430.3:c.2364+9A>C (PDE5A)	NP_236914.2:n.2364+9A>C
NM_033437.4:c.2334+9A>C (PDE5A)	NP_246273.2:n.2334+9A>C