Canonical Allele Identifier: CA384023666
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1864622283
gnomAD v3: 12-14978017-G-C
gnomAD v4: 12-14978017-G-C
MyVariant Identifiers: chr12:g.15130951G>C (hg19) chr12:g.14978017G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978017G>C , CM000674.2:g.14978017G>C GRCh38
NC_000012.11:g.15130951G>C , CM000674.1:g.15130951G>C GRCh37
NC_000012.10:g.15022218G>C NCBI36
NG_016859.1:g.9996G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.5G>C MANE Select ENSP00000266395.2:p.Ser2Thr
ENST00000266395.2:c.5G>C ENSP00000266395.2:p.Ser2Thr
NM_006205.2:c.5G>C NP_006196.1:p.Ser2Thr
XR_931376.1:n.175+11470C>G
XM_017019431.2:c.5G>C XP_016874920.1:p.Ser2Thr
XR_931376.2:n.389+11470C>G
NM_006205.3:c.5G>C MANE Select NP_006196.1:p.Ser2Thr
Search 100 bp 5'
Search 100 bp 3'