Canonical Allele Identifier: CA130125

Gene: PDE6H

Linked Data

• ClinVar Variation Id: 37245
• ClinVar RCV Id: RCV000030807 ; RCV000055928 ; RCV000779093 ; RCV001092385
• dbSNP Id: rs200311463
• ExAC: 12:15130981 C / G
• gnomAD v2: 12-15130981-C-G
• gnomAD v3: 12-14978047-C-G
• gnomAD v4: 12-14978047-C-G
• MyVariant Identifiers: chr12:g.15130981C>G (hg19) ; chr12:g.14978047C>G (hg38)
• PubMed: PMID:20301591 ; PMID:22901948 ; PMID:27472364

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978047C>G , CM000674.2:g.14978047C>G	GRCh38
NC_000012.11:g.15130981C>G , CM000674.1:g.15130981C>G	GRCh37
NC_000012.10:g.15022248C>G	NCBI36
NG_016859.1:g.10026C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.35C>G MANE Select	ENSP00000266395.2:p.Ser12Ter
ENST00000266395.2:c.35C>G	ENSP00000266395.2:p.Ser12Ter
NM_006205.2:c.35C>G	NP_006196.1:p.Ser12Ter
XR_931376.1:n.175+11440G>C
XM_017019431.2:c.35C>G	XP_016874920.1:p.Ser12Ter
XR_931376.2:n.389+11440G>C
NM_006205.3:c.35C>G MANE Select	NP_006196.1:p.Ser12Ter