Canonical Allele Identifier: CA6465854
Gene: PDE6H HGNC NCBI

Linked Data

ClinVar Variation Id: 1150936
ClinVar RCV Id: RCV001491691
dbSNP Id: rs766367744
ExAC: 12:15131063 A / G
gnomAD v2: 12-15131063-A-G
gnomAD v3: 12-14978129-A-G
gnomAD v4: 12-14978129-A-G
MyVariant Identifiers: chr12:g.15131063A>G (hg19) chr12:g.14978129A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978129A>G , CM000674.2:g.14978129A>G GRCh38
NC_000012.11:g.15131063A>G , CM000674.1:g.15131063A>G GRCh37
NC_000012.10:g.15022330A>G NCBI36
NG_016859.1:g.10108A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.117A>G MANE Select ENSP00000266395.2:p.Pro39=
ENST00000266395.2:c.117A>G ENSP00000266395.2:p.Pro39=
NM_006205.2:c.117A>G NP_006196.1:p.Pro39=
XR_931376.1:n.175+11358T>C
XM_017019431.2:c.117A>G XP_016874920.1:p.Pro39=
XR_931376.2:n.389+11358T>C
NM_006205.3:c.117A>G MANE Select NP_006196.1:p.Pro39=
Search 100 bp 5'
Search 100 bp 3'