Canonical Allele Identifier: CA685798864
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1283597468
MyVariant Identifiers: chr12:g.15130926A>G (hg19) chr12:g.14977992A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977992A>G , CM000674.2:g.14977992A>G GRCh38
NC_000012.11:g.15130926A>G , CM000674.1:g.15130926A>G GRCh37
NC_000012.10:g.15022193A>G NCBI36
NG_016859.1:g.9971A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-21A>G MANE Select ENSP00000266395.2:n.-21A>G
ENST00000266395.2:c.-21A>G ENSP00000266395.2:n.-21A>G
NM_006205.2:c.-21A>G NP_006196.1:n.-21A>G
XR_931376.1:n.175+11495T>C
XM_017019431.2:c.-21A>G XP_016874920.1:n.-21A>G
XR_931376.2:n.389+11495T>C
NM_006205.3:c.-21A>G MANE Select NP_006196.1:n.-21A>G
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