Canonical Allele Identifier: CA6465837
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs746790512
ExAC: 12:15130965 C / T
gnomAD v2: 12-15130965-C-T
gnomAD v3: 12-14978031-C-T
gnomAD v4: 12-14978031-C-T
MyVariant Identifiers: chr12:g.15130965C>T (hg19) chr12:g.14978031C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978031C>T , CM000674.2:g.14978031C>T GRCh38
NC_000012.11:g.15130965C>T , CM000674.1:g.15130965C>T GRCh37
NC_000012.10:g.15022232C>T NCBI36
NG_016859.1:g.10010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.19C>T MANE Select ENSP00000266395.2:p.Leu7=
ENST00000266395.2:c.19C>T ENSP00000266395.2:p.Leu7=
NM_006205.2:c.19C>T NP_006196.1:p.Leu7=
XR_931376.1:n.175+11456G>A
XM_017019431.2:c.19C>T XP_016874920.1:p.Leu7=
XR_931376.2:n.389+11456G>A
NM_006205.3:c.19C>T MANE Select NP_006196.1:p.Leu7=
Search 100 bp 5'
Search 100 bp 3'