Canonical Allele Identifier: CA2671905194

Gene: SEPTIN7P14 PDE5A

Linked Data

• gnomAD v4: 4-119501155-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119501155T>G , CM000666.2:g.119501155T>G	GRCh38
NC_000004.11:g.120422310T>G , CM000666.1:g.120422310T>G	GRCh37
NC_000004.10:g.120641758T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000508519.6:n.931+6632T>G (SEPTIN7P14)
ENST00000685525.1:n.1042+3252T>G (SEPTIN7P14)
ENST00000685974.1:n.939+3252T>G (SEPTIN7P14)
ENST00000686202.1:n.892+6632T>G (SEPTIN7P14)
ENST00000688315.1:n.1003+3252T>G (SEPTIN7P14)
ENST00000688480.1:n.998+3252T>G (SEPTIN7P14)
ENST00000690731.1:n.939+3252T>G (SEPTIN7P14)
ENST00000692409.1:n.939+3252T>G (SEPTIN7P14)
ENST00000692642.1:n.1012+3252T>G (SEPTIN7P14)
ENST00000692945.1:n.984+3252T>G (SEPTIN7P14)
ENST00000354960.8:c.2490+15A>C (PDE5A) MANE Select	ENSP00000347046.3:n.2490+15A>C
ENST00000264805.9:c.2364+15A>C (PDE5A)	ENSP00000264805.5:n.2364+15A>C
ENST00000354960.7:c.2490+15A>C (PDE5A)	ENSP00000347046.3:n.2490+15A>C
ENST00000394439.5:c.2334+15A>C (PDE5A)	ENSP00000377957.1:n.2334+15A>C
ENST00000498873.5:n.364+3252T>G (SEPTIN7P14)
ENST00000503412.1:c.560A>C (PDE5A)
ENST00000510844.5:n.191+3252T>G (SEPTIN7P14)
NM_001083.3:c.2490+15A>C (PDE5A)	NP_001074.2:n.2490+15A>C
NM_033430.2:c.2364+15A>C (PDE5A)	NP_236914.2:n.2364+15A>C
NM_033437.3:c.2334+15A>C (PDE5A)	NP_246273.2:n.2334+15A>C
NM_001083.4:c.2490+15A>C (PDE5A) MANE Select	NP_001074.2:n.2490+15A>C
NM_033430.3:c.2364+15A>C (PDE5A)	NP_236914.2:n.2364+15A>C
NM_033437.4:c.2334+15A>C (PDE5A)	NP_246273.2:n.2334+15A>C