Canonical Allele Identifier: CA384023920
Gene: PDE6H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978075A>T , CM000674.2:g.14978075A>T GRCh38
NC_000012.11:g.15131009A>T , CM000674.1:g.15131009A>T GRCh37
NC_000012.10:g.15022276A>T NCBI36
NG_016859.1:g.10054A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.63A>T MANE Select ENSP00000266395.2:p.Lys21Asn
ENST00000266395.2:c.63A>T ENSP00000266395.2:p.Lys21Asn
NM_006205.2:c.63A>T NP_006196.1:p.Lys21Asn
XR_931376.1:n.175+11412T>A
XM_017019431.2:c.63A>T XP_016874920.1:p.Lys21Asn
XR_931376.2:n.389+11412T>A
NM_006205.3:c.63A>T MANE Select NP_006196.1:p.Lys21Asn