Canonical Allele Identifier: CA361693643

Gene: PDE6A

Linked Data

• dbSNP Id: rs142934552
• gnomAD v2: 5-149265830-C-A
• gnomAD v4: 5-149886267-C-A
• MyVariant Identifiers: chr5:g.149265830C>A (hg19) ; chr5:g.149886267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149886267C>A , CM000667.2:g.149886267C>A	GRCh38
NC_000005.9:g.149265830C>A , CM000667.1:g.149265830C>A	GRCh37
NC_000005.8:g.149246023C>A	NCBI36
NG_009102.1:g.63527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1836G>T MANE Select	ENSP00000255266.5:p.Met612Ile
ENST00000255266.9:c.1836G>T	ENSP00000255266.5:p.Met612Ile
ENST00000508173.5:n.2020G>T
ENST00000613228.1:c.1593G>T	ENSP00000478060.1:p.Met531Ile
ENST00000617647.4:c.1593G>T	ENSP00000482774.1:p.Met531Ile
NM_000440.2:c.1836G>T	NP_000431.2:p.Met612Ile
XM_011537648.1:c.1836G>T	XP_011535950.1:p.Met612Ile
XM_011537649.1:c.1290G>T	XP_011535951.1:p.Met430Ile
XM_011537650.1:c.951G>T	XP_011535952.1:p.Met317Ile
XM_011537651.1:c.789G>T	XP_011535953.1:p.Met263Ile
XM_011537652.1:c.759G>T	XP_011535954.1:p.Met253Ile
XM_011537653.1:c.759G>T	XP_011535955.1:p.Met253Ile
XM_011537654.1:c.759G>T	XP_011535956.1:p.Met253Ile
XM_011537650.2:c.951G>T	XP_011535952.1:p.Met317Ile
XM_011537651.2:c.789G>T	XP_011535953.1:p.Met263Ile
XM_011537653.2:c.759G>T	XP_011535955.1:p.Met253Ile
XM_011537654.2:c.759G>T	XP_011535956.1:p.Met253Ile
XM_017009572.2:c.1593G>T	XP_016865061.1:p.Met531Ile
NM_000440.3:c.1836G>T MANE Select	NP_000431.2:p.Met612Ile