Canonical Allele Identifier: CA2163236

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231738157A>G , CM000664.2:g.231738157A>G	GRCh38
NC_000002.11:g.232602867A>G , CM000664.1:g.232602867A>G	GRCh37
NC_000002.10:g.232311111A>G	NCBI36
NG_034064.1:g.48171T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.140-19T>C MANE Select	NP_002592.1:n.140-19T>C
ENST00000287600.9:c.140-19T>C MANE Select	ENSP00000287600.4:n.140-19T>C
NM_001291018.1:c.140-19T>C	NP_001277947.1:n.140-19T>C
NM_001291018.2:c.140-19T>C	NP_001277947.1:n.140-19T>C
NM_002601.3:c.140-19T>C	NP_002592.1:n.140-19T>C
ENST00000287600.8:c.140-19T>C	ENSP00000287600.4:n.140-19T>C
ENST00000409772.5:c.140-19T>C	ENSP00000387108.1:n.140-19T>C
ENST00000428104.2:c.83-19T>C	ENSP00000399098.2:n.83-19T>C
ENST00000486044.1:n.289-19T>C
XM_011511342.1:c.83-19T>C	XP_011509644.1:n.83-19T>C