Canonical Allele Identifier: CA361695224

Gene: PDE6A

Linked Data

• MyVariant Identifiers: chr5:g.149274836C>G (hg19) ; chr5:g.149895273C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895273C>G , CM000667.2:g.149895273C>G	GRCh38
NC_000005.9:g.149274836C>G , CM000667.1:g.149274836C>G	GRCh37
NC_000005.8:g.149255029C>G	NCBI36
NG_009102.1:g.54521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1638G>C MANE Select	ENSP00000255266.5:p.Met546Ile
ENST00000255266.9:c.1638G>C	ENSP00000255266.5:p.Met546Ile
ENST00000508173.5:n.1822G>C
ENST00000613228.1:c.1395G>C	ENSP00000478060.1:p.Met465Ile
ENST00000617647.4:c.1395G>C	ENSP00000482774.1:p.Met465Ile
NM_000440.2:c.1638G>C	NP_000431.2:p.Met546Ile
XM_011537648.1:c.1638G>C	XP_011535950.1:p.Met546Ile
XM_011537649.1:c.1092G>C	XP_011535951.1:p.Met364Ile
XM_011537650.1:c.753G>C	XP_011535952.1:p.Met251Ile
XM_011537651.1:c.591G>C	XP_011535953.1:p.Met197Ile
XM_011537652.1:c.561G>C	XP_011535954.1:p.Met187Ile
XM_011537653.1:c.561G>C	XP_011535955.1:p.Met187Ile
XM_011537654.1:c.561G>C	XP_011535956.1:p.Met187Ile
XM_011537650.2:c.753G>C	XP_011535952.1:p.Met251Ile
XM_011537651.2:c.591G>C	XP_011535953.1:p.Met197Ile
XM_011537653.2:c.561G>C	XP_011535955.1:p.Met187Ile
XM_011537654.2:c.561G>C	XP_011535956.1:p.Met187Ile
XM_017009572.2:c.1395G>C	XP_016865061.1:p.Met465Ile
NM_000440.3:c.1638G>C MANE Select	NP_000431.2:p.Met546Ile