Canonical Allele Identifier: CA350979331

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231781069T>A , CM000664.2:g.231781069T>A	GRCh38
NC_000002.11:g.232645779T>A , CM000664.1:g.232645779T>A	GRCh37
NC_000002.10:g.232354023T>A	NCBI36
NG_034064.1:g.5259A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.46A>T MANE Select	NP_002592.1:p.Lys16Ter
ENST00000287600.9:c.46A>T MANE Select	ENSP00000287600.4:p.Lys16Ter
NM_001291018.1:c.46A>T	NP_001277947.1:p.Lys16Ter
NM_001291018.2:c.46A>T	NP_001277947.1:p.Lys16Ter
NM_002601.3:c.46A>T	NP_002592.1:p.Lys16Ter
NR_110994.1:n.259A>T
NR_110994.2:n.214A>T
ENST00000287600.8:c.46A>T	ENSP00000287600.4:p.Lys16Ter
ENST00000409772.5:c.46A>T	ENSP00000387108.1:p.Lys16Ter
ENST00000428104.2:c.-22+743A>T	ENSP00000399098.2:n.-22+743A>T
ENST00000477748.1:n.214A>T
ENST00000486044.1:n.195A>T
XM_011511342.1:c.-538A>T	XP_011509644.1:n.-538A>T