Canonical Allele Identifier: CA129071256

Gene: PDE6A

Linked Data

• dbSNP Id: rs769074867
• gnomAD v2: 5-149276364-G-C
• gnomAD v3: 5-149896801-G-C
• gnomAD v4: 5-149896801-G-C
• MyVariant Identifiers: chr5:g.149276364G>C (hg19) ; chr5:g.149276364_149276365delinsCA (hg19) ; chr5:g.149896801G>C (hg38) ; chr5:g.149896801_149896802delinsCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896801G>C , CM000667.2:g.149896801G>C	GRCh38
NC_000005.9:g.149276364G>C , CM000667.1:g.149276364G>C	GRCh37
NC_000005.8:g.149256557G>C	NCBI36
NG_009102.1:g.52993C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1408-25C>G MANE Select	ENSP00000255266.5:n.1408-25C>G
ENST00000255266.9:c.1408-25C>G	ENSP00000255266.5:n.1408-25C>G
ENST00000508173.5:n.1384-25C>G
ENST00000613228.1:c.1165-25C>G	ENSP00000478060.1:n.1165-25C>G
ENST00000617647.4:c.1165-25C>G	ENSP00000482774.1:n.1165-25C>G
NM_000440.2:c.1408-25C>G	NP_000431.2:n.1408-25C>G
XM_011537648.1:c.1408-25C>G	XP_011535950.1:n.1408-25C>G
XM_011537649.1:c.862-25C>G	XP_011535951.1:n.862-25C>G
XM_011537650.1:c.523-25C>G	XP_011535952.1:n.523-25C>G
XM_011537651.1:c.361-25C>G	XP_011535953.1:n.361-25C>G
XM_011537652.1:c.331-25C>G	XP_011535954.1:n.331-25C>G
XM_011537653.1:c.331-25C>G	XP_011535955.1:n.331-25C>G
XM_011537654.1:c.331-25C>G	XP_011535956.1:n.331-25C>G
XM_011537650.2:c.523-25C>G	XP_011535952.1:n.523-25C>G
XM_011537651.2:c.361-25C>G	XP_011535953.1:n.361-25C>G
XM_011537653.2:c.331-25C>G	XP_011535955.1:n.331-25C>G
XM_011537654.2:c.331-25C>G	XP_011535956.1:n.331-25C>G
XM_017009572.2:c.1165-25C>G	XP_016865061.1:n.1165-25C>G
NM_000440.3:c.1408-25C>G MANE Select	NP_000431.2:n.1408-25C>G