Canonical Allele Identifier: CA10609636
Community Standard Title: NM_001164688.2(RD3):c.*1634G>A
Gene: RD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.211477402C>T , CM000663.2:g.211477402C>T GRCh38
NC_000001.10:g.211650744C>T , CM000663.1:g.211650744C>T GRCh37
NC_000001.9:g.209717367C>T NCBI36
NG_013042.1:g.20516G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001164688.2:c.*1634G>A MANE Select NP_001158160.1:n.*1634G>A
ENST00000680073.1:c.*1634G>A MANE Select ENSP00000505312.1:n.*1634G>A
NM_001164688.1:c.*1634G>A NP_001158160.1:n.*1634G>A
NM_183059.2:c.*1634G>A NP_898882.1:n.*1634G>A
NM_183059.3:c.*1634G>A NP_898882.1:n.*1634G>A
ENST00000367002.4:c.*1634G>A ENSP00000355969.4:n.*1634G>A
ENST00000367002.5:c.*1634G>A ENSP00000355969.4:n.*1634G>A
ENST00000484910.1:n.2190G>A
XM_011509479.1:c.*1634G>A XP_011507781.1:n.*1634G>A
XM_017001151.1:c.*1634G>A XP_016856640.1:n.*1634G>A