Canonical Allele Identifier: CA3504564

Gene: PDE6A

Linked Data

• dbSNP Id: rs568604569
• ExAC: 5:149274698 C / G
• gnomAD v2: 5-149274698-C-G
• gnomAD v3: 5-149895135-C-G
• gnomAD v4: 5-149895135-C-G
• MyVariant Identifiers: chr5:g.149274698C>G (hg19) ; chr5:g.149895135C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895135C>G , CM000667.2:g.149895135C>G	GRCh38
NC_000005.9:g.149274698C>G , CM000667.1:g.149274698C>G	GRCh37
NC_000005.8:g.149254891C>G	NCBI36
NG_009102.1:g.54659G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1728+48G>C MANE Select	ENSP00000255266.5:n.1728+48G>C
ENST00000255266.9:c.1728+48G>C	ENSP00000255266.5:n.1728+48G>C
ENST00000508173.5:n.1912+48G>C
ENST00000613228.1:c.1485+48G>C	ENSP00000478060.1:n.1485+48G>C
ENST00000617647.4:c.1485+48G>C	ENSP00000482774.1:n.1485+48G>C
NM_000440.2:c.1728+48G>C	NP_000431.2:n.1728+48G>C
XM_011537648.1:c.1728+48G>C	XP_011535950.1:n.1728+48G>C
XM_011537649.1:c.1182+48G>C	XP_011535951.1:n.1182+48G>C
XM_011537650.1:c.843+48G>C	XP_011535952.1:n.843+48G>C
XM_011537651.1:c.681+48G>C	XP_011535953.1:n.681+48G>C
XM_011537652.1:c.651+48G>C	XP_011535954.1:n.651+48G>C
XM_011537653.1:c.651+48G>C	XP_011535955.1:n.651+48G>C
XM_011537654.1:c.651+48G>C	XP_011535956.1:n.651+48G>C
XM_011537650.2:c.843+48G>C	XP_011535952.1:n.843+48G>C
XM_011537651.2:c.681+48G>C	XP_011535953.1:n.681+48G>C
XM_011537653.2:c.651+48G>C	XP_011535955.1:n.651+48G>C
XM_011537654.2:c.651+48G>C	XP_011535956.1:n.651+48G>C
XM_017009572.2:c.1485+48G>C	XP_016865061.1:n.1485+48G>C
NM_000440.3:c.1728+48G>C MANE Select	NP_000431.2:n.1728+48G>C