Canonical Allele Identifier: CA2575088690
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1864620275
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977943C>G , CM000674.2:g.14977943C>G GRCh38
NC_000012.11:g.15130877C>G , CM000674.1:g.15130877C>G GRCh37
NC_000012.10:g.15022144C>G NCBI36
NG_016859.1:g.9922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-29C>G MANE Select ENSP00000266395.2:n.-41-29C>G
ENST00000266395.2:c.-41-29C>G ENSP00000266395.2:n.-41-29C>G
NM_006205.2:c.-41-29C>G NP_006196.1:n.-41-29C>G
XR_931376.1:n.175+11544G>C
XM_017019431.2:c.-70C>G XP_016874920.1:n.-70C>G
XR_931376.2:n.389+11544G>C
NM_006205.3:c.-41-29C>G MANE Select NP_006196.1:n.-41-29C>G
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