Canonical Allele Identifier: CA226597

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98903
• ClinVar RCV Id: RCV000085236 ; RCV000261103 ; RCV000671895 ; RCV001100477 ; RCV001100476 ; RCV004527322
• dbSNP Id: rs61752907
• ExAC: 1:68904645 C / A
• gnomAD v2: 1-68904645-C-A
• gnomAD v3: 1-68438962-C-A
• gnomAD v4: 1-68438962-C-A
• MyVariant Identifiers: chr1:g.68904645C>A (hg19) ; chr1:g.68438962C>A (hg38)
• ERepo: CA226597/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438962C>A , CM000663.2:g.68438962C>A	GRCh38
NC_000001.10:g.68904645C>A , CM000663.1:g.68904645C>A	GRCh37
NC_000001.9:g.68677233C>A	NCBI36
NG_008472.1:g.15998G>T
NG_008472.2:g.15998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.978G>T MANE Select	ENSP00000262340.5:p.Val326=
ENST00000262340.5:c.978G>T	ENSP00000262340.5:p.Val326=
NM_000329.2:c.978G>T	NP_000320.1:p.Val326=
XM_017002027.1:c.702G>T	XP_016857516.1:p.Val234=
NM_000329.3:c.978G>T MANE Select	NP_000320.1:p.Val326=