Canonical Allele Identifier: CA384023796
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1363445788
gnomAD v2: 12-15130978-C-G
gnomAD v4: 12-14978044-C-G
MyVariant Identifiers: chr12:g.15130978C>G (hg19) chr12:g.14978044C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978044C>G , CM000674.2:g.14978044C>G GRCh38
NC_000012.11:g.15130978C>G , CM000674.1:g.15130978C>G GRCh37
NC_000012.10:g.15022245C>G NCBI36
NG_016859.1:g.10023C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.32C>G MANE Select ENSP00000266395.2:p.Ala11Gly
ENST00000266395.2:c.32C>G ENSP00000266395.2:p.Ala11Gly
NM_006205.2:c.32C>G NP_006196.1:p.Ala11Gly
XR_931376.1:n.175+11443G>C
XM_017019431.2:c.32C>G XP_016874920.1:p.Ala11Gly
XR_931376.2:n.389+11443G>C
NM_006205.3:c.32C>G MANE Select NP_006196.1:p.Ala11Gly
Search 100 bp 5'
Search 100 bp 3'