Canonical Allele Identifier: CA447141382

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274830G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895267G>T , CM000667.2:g.149895267G>T	GRCh38
NC_000005.9:g.149274830G>T , CM000667.1:g.149274830G>T	GRCh37
NC_000005.8:g.149255023G>T	NCBI36
NG_009102.1:g.54527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1644C>A MANE Select	ENSP00000255266.5:p.Ser548=
ENST00000255266.9:c.1644C>A	ENSP00000255266.5:p.Ser548=
ENST00000508173.5:n.1828C>A
ENST00000613228.1:c.1401C>A	ENSP00000478060.1:p.Ser467=
ENST00000617647.4:c.1401C>A	ENSP00000482774.1:p.Ser467=
NM_000440.2:c.1644C>A	NP_000431.2:p.Ser548=
XM_011537648.1:c.1644C>A	XP_011535950.1:p.Ser548=
XM_011537649.1:c.1098C>A	XP_011535951.1:p.Ser366=
XM_011537650.1:c.759C>A	XP_011535952.1:p.Ser253=
XM_011537651.1:c.597C>A	XP_011535953.1:p.Ser199=
XM_011537652.1:c.567C>A	XP_011535954.1:p.Ser189=
XM_011537653.1:c.567C>A	XP_011535955.1:p.Ser189=
XM_011537654.1:c.567C>A	XP_011535956.1:p.Ser189=
XM_011537650.2:c.759C>A	XP_011535952.1:p.Ser253=
XM_011537651.2:c.597C>A	XP_011535953.1:p.Ser199=
XM_011537653.2:c.567C>A	XP_011535955.1:p.Ser189=
XM_011537654.2:c.567C>A	XP_011535956.1:p.Ser189=
XM_017009572.2:c.1401C>A	XP_016865061.1:p.Ser467=
NM_000440.3:c.1644C>A MANE Select	NP_000431.2:p.Ser548=