Canonical Allele Identifier: CA1139656566

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211478031G>C , CM000663.2:g.211478031G>C	GRCh38
NC_000001.10:g.211651373G>C , CM000663.1:g.211651373G>C	GRCh37
NC_000001.9:g.209717996G>C	NCBI36
NG_013042.1:g.19887C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.*1005C>G MANE Select	NP_001158160.1:n.*1005C>G
ENST00000680073.1:c.*1005C>G MANE Select	ENSP00000505312.1:n.*1005C>G
NM_001164688.1:c.*1005C>G	NP_001158160.1:n.*1005C>G
NM_183059.2:c.*1005C>G	NP_898882.1:n.*1005C>G
NM_183059.3:c.*1005C>G	NP_898882.1:n.*1005C>G
ENST00000367002.4:c.*1005C>G	ENSP00000355969.4:n.*1005C>G
ENST00000367002.5:c.*1005C>G	ENSP00000355969.4:n.*1005C>G
ENST00000484910.1:n.1561C>G
XM_011509479.1:c.*1005C>G	XP_011507781.1:n.*1005C>G
XM_017001151.1:c.*1005C>G	XP_016856640.1:n.*1005C>G