Canonical Allele Identifier: CA2671905200

Gene: SEPTIN7P14 PDE5A

Linked Data

• gnomAD v4: 4-119501159-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119501159C>T , CM000666.2:g.119501159C>T	GRCh38
NC_000004.11:g.120422314C>T , CM000666.1:g.120422314C>T	GRCh37
NC_000004.10:g.120641762C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000508519.6:n.931+6636C>T (SEPTIN7P14)
ENST00000685525.1:n.1042+3256C>T (SEPTIN7P14)
ENST00000685974.1:n.939+3256C>T (SEPTIN7P14)
ENST00000686202.1:n.892+6636C>T (SEPTIN7P14)
ENST00000688315.1:n.1003+3256C>T (SEPTIN7P14)
ENST00000688480.1:n.998+3256C>T (SEPTIN7P14)
ENST00000690731.1:n.939+3256C>T (SEPTIN7P14)
ENST00000692409.1:n.939+3256C>T (SEPTIN7P14)
ENST00000692642.1:n.1012+3256C>T (SEPTIN7P14)
ENST00000692945.1:n.984+3256C>T (SEPTIN7P14)
ENST00000354960.8:c.2490+11G>A (PDE5A) MANE Select	ENSP00000347046.3:n.2490+11G>A
ENST00000264805.9:c.2364+11G>A (PDE5A)	ENSP00000264805.5:n.2364+11G>A
ENST00000354960.7:c.2490+11G>A (PDE5A)	ENSP00000347046.3:n.2490+11G>A
ENST00000394439.5:c.2334+11G>A (PDE5A)	ENSP00000377957.1:n.2334+11G>A
ENST00000498873.5:n.364+3256C>T (SEPTIN7P14)
ENST00000503412.1:c.556G>A (PDE5A)
ENST00000510844.5:n.191+3256C>T (SEPTIN7P14)
NM_001083.3:c.2490+11G>A (PDE5A)	NP_001074.2:n.2490+11G>A
NM_033430.2:c.2364+11G>A (PDE5A)	NP_236914.2:n.2364+11G>A
NM_033437.3:c.2334+11G>A (PDE5A)	NP_246273.2:n.2334+11G>A
NM_001083.4:c.2490+11G>A (PDE5A) MANE Select	NP_001074.2:n.2490+11G>A
NM_033430.3:c.2364+11G>A (PDE5A)	NP_236914.2:n.2364+11G>A
NM_033437.4:c.2334+11G>A (PDE5A)	NP_246273.2:n.2334+11G>A