Canonical Allele Identifier: CA401474404

Gene: PDE6G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81653189C>A , CM000679.2:g.81653189C>A	GRCh38
NC_000017.10:g.79620219C>A , CM000679.1:g.79620219C>A	GRCh37
NC_000017.9:g.77230624C>A	NCBI36
NG_009834.1:g.8389G>T
NG_009834.2:g.15230G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002602.4:c.117G>T MANE Select	NP_002593.1:p.Lys39Asn
ENST00000331056.10:c.117G>T MANE Select	ENSP00000328412.5:p.Lys39Asn
NM_001365724.1:c.117G>T	NP_001352653.1:p.Lys39Asn
NM_001365725.1:c.117G>T	NP_001352654.1:p.Lys39Asn
NM_002602.3:c.117G>T	NP_002593.1:p.Lys39Asn
NR_026872.1:n.86-1504G>T
NR_026872.2:n.51-1504G>T
NR_158591.1:n.70-1504G>T
ENST00000331056.9:c.117G>T	ENSP00000328412.5:p.Lys39Asn
ENST00000571004.1:c.117G>T	ENSP00000461464.1:p.Lys39Asn
ENST00000571224.5:c.117G>T	ENSP00000458167.1:p.Lys39Asn
ENST00000573076.5:c.267G>T	ENSP00000458567.1:p.Lys89Asn
ENST00000574024.1:c.80-1504G>T	ENSP00000460962.1:n.80-1504G>T
ENST00000574777.1:n.47-1504G>T
XM_006721942.2:c.267G>T	XP_006722005.1:p.Lys89Asn
XM_006721942.3:c.267G>T	XP_006722005.1:p.Lys89Asn
XM_017024734.1:c.327G>T	XP_016880223.1:p.Lys109Asn
XM_017024736.1:c.117G>T	XP_016880225.1:p.Lys39Asn