Canonical Allele Identifier: CA37186148

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211477324C>T , CM000663.2:g.211477324C>T	GRCh38
NC_000001.10:g.211650666C>T , CM000663.1:g.211650666C>T	GRCh37
NC_000001.9:g.209717289C>T	NCBI36
NG_013042.1:g.20594G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.*1712G>A MANE Select	NP_001158160.1:n.*1712G>A
ENST00000680073.1:c.*1712G>A MANE Select	ENSP00000505312.1:n.*1712G>A
NM_001164688.1:c.*1712G>A	NP_001158160.1:n.*1712G>A
NM_183059.2:c.*1712G>A	NP_898882.1:n.*1712G>A
NM_183059.3:c.*1712G>A	NP_898882.1:n.*1712G>A
ENST00000367002.4:c.*1712G>A	ENSP00000355969.4:n.*1712G>A
ENST00000367002.5:c.*1712G>A	ENSP00000355969.4:n.*1712G>A
ENST00000484910.1:n.2268G>A
XM_011509479.1:c.*1712G>A	XP_011507781.1:n.*1712G>A
XM_017001151.1:c.*1712G>A	XP_016856640.1:n.*1712G>A