Canonical Allele Identifier: CA8838932

Gene: PDE6G

Linked Data

• ClinVar Variation Id: 325854
• ClinVar RCV Id: RCV000277019
• dbSNP Id: rs13372
• ExAC: 17:79617705 G / A
• gnomAD v2: 17-79617705-G-A
• gnomAD v3: 17-81650675-G-A
• gnomAD v4: 17-81650675-G-A
• MyVariant Identifiers: chr17:g.79617705G>A (hg19) ; chr17:g.81650675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81650675G>A , CM000679.2:g.81650675G>A	GRCh38
NC_000017.10:g.79617705G>A , CM000679.1:g.79617705G>A	GRCh37
NC_000017.9:g.77228110G>A	NCBI36
NG_009834.1:g.10903C>T
NG_009834.2:g.17744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331056.10:c.*399C>T MANE Select	ENSP00000328412.5:n.*399C>T
ENST00000331056.9:c.*399C>T	ENSP00000328412.5:n.*399C>T
ENST00000573076.5:c.*399C>T	ENSP00000458567.1:n.*399C>T
ENST00000574024.1:c.596C>T	ENSP00000460962.1:n.596C>T
NM_002602.3:c.*399C>T	NP_002593.1:n.*399C>T
NR_026872.1:n.602C>T
XM_006721942.2:c.*399C>T	XP_006722005.1:n.*399C>T
NM_001365724.1:c.*399C>T	NP_001352653.1:n.*399C>T
NM_001365725.1:c.*399C>T	NP_001352654.1:n.*399C>T
NR_158591.1:n.586C>T
XM_006721942.3:c.*399C>T	XP_006722005.1:n.*399C>T
XM_017024734.1:c.*399C>T	XP_016880223.1:n.*399C>T
XM_017024736.1:c.*399C>T	XP_016880225.1:n.*399C>T
NM_002602.4:c.*399C>T MANE Select	NP_002593.1:n.*399C>T
NR_026872.2:n.567C>T