Canonical Allele Identifier: CA447141338

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895186-C-T
• MyVariant Identifiers: chr5:g.149274749C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895186C>T , CM000667.2:g.149895186C>T	GRCh38
NC_000005.9:g.149274749C>T , CM000667.1:g.149274749C>T	GRCh37
NC_000005.8:g.149254942C>T	NCBI36
NG_009102.1:g.54608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1725G>A MANE Select	ENSP00000255266.5:p.Leu575=
ENST00000255266.9:c.1725G>A	ENSP00000255266.5:p.Leu575=
ENST00000508173.5:n.1909G>A
ENST00000613228.1:c.1482G>A	ENSP00000478060.1:p.Leu494=
ENST00000617647.4:c.1482G>A	ENSP00000482774.1:p.Leu494=
NM_000440.2:c.1725G>A	NP_000431.2:p.Leu575=
XM_011537648.1:c.1725G>A	XP_011535950.1:p.Leu575=
XM_011537649.1:c.1179G>A	XP_011535951.1:p.Leu393=
XM_011537650.1:c.840G>A	XP_011535952.1:p.Leu280=
XM_011537651.1:c.678G>A	XP_011535953.1:p.Leu226=
XM_011537652.1:c.648G>A	XP_011535954.1:p.Leu216=
XM_011537653.1:c.648G>A	XP_011535955.1:p.Leu216=
XM_011537654.1:c.648G>A	XP_011535956.1:p.Leu216=
XM_011537650.2:c.840G>A	XP_011535952.1:p.Leu280=
XM_011537651.2:c.678G>A	XP_011535953.1:p.Leu226=
XM_011537653.2:c.648G>A	XP_011535955.1:p.Leu216=
XM_011537654.2:c.648G>A	XP_011535956.1:p.Leu216=
XM_017009572.2:c.1482G>A	XP_016865061.1:p.Leu494=
NM_000440.3:c.1725G>A MANE Select	NP_000431.2:p.Leu575=