Canonical Allele Identifier: CA361695063

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895198-C-A
• MyVariant Identifiers: chr5:g.149274761C>A (hg19) ; chr5:g.149895198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895198C>A , CM000667.2:g.149895198C>A	GRCh38
NC_000005.9:g.149274761C>A , CM000667.1:g.149274761C>A	GRCh37
NC_000005.8:g.149254954C>A	NCBI36
NG_009102.1:g.54596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1713G>T MANE Select	ENSP00000255266.5:p.Met571Ile
ENST00000255266.9:c.1713G>T	ENSP00000255266.5:p.Met571Ile
ENST00000508173.5:n.1897G>T
ENST00000613228.1:c.1470G>T	ENSP00000478060.1:p.Met490Ile
ENST00000617647.4:c.1470G>T	ENSP00000482774.1:p.Met490Ile
NM_000440.2:c.1713G>T	NP_000431.2:p.Met571Ile
XM_011537648.1:c.1713G>T	XP_011535950.1:p.Met571Ile
XM_011537649.1:c.1167G>T	XP_011535951.1:p.Met389Ile
XM_011537650.1:c.828G>T	XP_011535952.1:p.Met276Ile
XM_011537651.1:c.666G>T	XP_011535953.1:p.Met222Ile
XM_011537652.1:c.636G>T	XP_011535954.1:p.Met212Ile
XM_011537653.1:c.636G>T	XP_011535955.1:p.Met212Ile
XM_011537654.1:c.636G>T	XP_011535956.1:p.Met212Ile
XM_011537650.2:c.828G>T	XP_011535952.1:p.Met276Ile
XM_011537651.2:c.666G>T	XP_011535953.1:p.Met222Ile
XM_011537653.2:c.636G>T	XP_011535955.1:p.Met212Ile
XM_011537654.2:c.636G>T	XP_011535956.1:p.Met212Ile
XM_017009572.2:c.1470G>T	XP_016865061.1:p.Met490Ile
NM_000440.3:c.1713G>T MANE Select	NP_000431.2:p.Met571Ile