Canonical Allele Identifier: CA447141377

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895264-C-A
• MyVariant Identifiers: chr5:g.149274827C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895264C>A , CM000667.2:g.149895264C>A	GRCh38
NC_000005.9:g.149274827C>A , CM000667.1:g.149274827C>A	GRCh37
NC_000005.8:g.149255020C>A	NCBI36
NG_009102.1:g.54530G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1647G>T MANE Select	ENSP00000255266.5:p.Leu549=
ENST00000255266.9:c.1647G>T	ENSP00000255266.5:p.Leu549=
ENST00000508173.5:n.1831G>T
ENST00000613228.1:c.1404G>T	ENSP00000478060.1:p.Leu468=
ENST00000617647.4:c.1404G>T	ENSP00000482774.1:p.Leu468=
NM_000440.2:c.1647G>T	NP_000431.2:p.Leu549=
XM_011537648.1:c.1647G>T	XP_011535950.1:p.Leu549=
XM_011537649.1:c.1101G>T	XP_011535951.1:p.Leu367=
XM_011537650.1:c.762G>T	XP_011535952.1:p.Leu254=
XM_011537651.1:c.600G>T	XP_011535953.1:p.Leu200=
XM_011537652.1:c.570G>T	XP_011535954.1:p.Leu190=
XM_011537653.1:c.570G>T	XP_011535955.1:p.Leu190=
XM_011537654.1:c.570G>T	XP_011535956.1:p.Leu190=
XM_011537650.2:c.762G>T	XP_011535952.1:p.Leu254=
XM_011537651.2:c.600G>T	XP_011535953.1:p.Leu200=
XM_011537653.2:c.570G>T	XP_011535955.1:p.Leu190=
XM_011537654.2:c.570G>T	XP_011535956.1:p.Leu190=
XM_017009572.2:c.1404G>T	XP_016865061.1:p.Leu468=
NM_000440.3:c.1647G>T MANE Select	NP_000431.2:p.Leu549=