Canonical Allele Identifier: CA350974200

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231737254T>G , CM000664.2:g.231737254T>G	GRCh38
NC_000002.11:g.232601964T>G , CM000664.1:g.232601964T>G	GRCh37
NC_000002.10:g.232310208T>G	NCBI36
NG_034064.1:g.49074A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.304A>C MANE Select	NP_002592.1:p.Thr102Pro
ENST00000287600.9:c.304A>C MANE Select	ENSP00000287600.4:p.Thr102Pro
NM_001291018.1:c.265+759A>C	NP_001277947.1:n.265+759A>C
NM_001291018.2:c.265+759A>C	NP_001277947.1:n.265+759A>C
NM_002601.3:c.304A>C	NP_002592.1:p.Thr102Pro
ENST00000287600.8:c.304A>C	ENSP00000287600.4:p.Thr102Pro
ENST00000409772.5:c.265+759A>C	ENSP00000387108.1:n.265+759A>C
ENST00000428104.2:c.247A>C	ENSP00000399098.2:p.Thr83Pro
XM_011511342.1:c.247A>C	XP_011509644.1:p.Thr83Pro