Canonical Allele Identifier: CA447141394

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895287-G-A
• MyVariant Identifiers: chr5:g.149274850G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895287G>A , CM000667.2:g.149895287G>A	GRCh38
NC_000005.9:g.149274850G>A , CM000667.1:g.149274850G>A	GRCh37
NC_000005.8:g.149255043G>A	NCBI36
NG_009102.1:g.54507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1624C>T MANE Select	ENSP00000255266.5:p.Leu542=
ENST00000255266.9:c.1624C>T	ENSP00000255266.5:p.Leu542=
ENST00000508173.5:n.1808C>T
ENST00000613228.1:c.1381C>T	ENSP00000478060.1:p.Leu461=
ENST00000617647.4:c.1381C>T	ENSP00000482774.1:p.Leu461=
NM_000440.2:c.1624C>T	NP_000431.2:p.Leu542=
XM_011537648.1:c.1624C>T	XP_011535950.1:p.Leu542=
XM_011537649.1:c.1078C>T	XP_011535951.1:p.Leu360=
XM_011537650.1:c.739C>T	XP_011535952.1:p.Leu247=
XM_011537651.1:c.577C>T	XP_011535953.1:p.Leu193=
XM_011537652.1:c.547C>T	XP_011535954.1:p.Leu183=
XM_011537653.1:c.547C>T	XP_011535955.1:p.Leu183=
XM_011537654.1:c.547C>T	XP_011535956.1:p.Leu183=
XM_011537650.2:c.739C>T	XP_011535952.1:p.Leu247=
XM_011537651.2:c.577C>T	XP_011535953.1:p.Leu193=
XM_011537653.2:c.547C>T	XP_011535955.1:p.Leu183=
XM_011537654.2:c.547C>T	XP_011535956.1:p.Leu183=
XM_017009572.2:c.1381C>T	XP_016865061.1:p.Leu461=
NM_000440.3:c.1624C>T MANE Select	NP_000431.2:p.Leu542=