Canonical Allele Identifier: CA344878682

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211479113C>G , CM000663.2:g.211479113C>G	GRCh38
NC_000001.10:g.211652455C>G , CM000663.1:g.211652455C>G	GRCh37
NC_000001.9:g.209719078C>G	NCBI36
NG_013042.1:g.18805G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.511G>C MANE Select	NP_001158160.1:p.Glu171Gln
ENST00000680073.1:c.511G>C MANE Select	ENSP00000505312.1:p.Glu171Gln
NM_001164688.1:c.511G>C	NP_001158160.1:p.Glu171Gln
NM_183059.2:c.511G>C	NP_898882.1:p.Glu171Gln
NM_183059.3:c.511G>C	NP_898882.1:p.Glu171Gln
ENST00000367002.4:c.511G>C	ENSP00000355969.4:p.Glu171Gln
ENST00000367002.5:c.511G>C	ENSP00000355969.4:p.Glu171Gln
ENST00000484910.1:n.479G>C
XM_011509479.1:c.511G>C	XP_011507781.1:p.Glu171Gln
XM_017001151.1:c.547G>C	XP_016856640.1:p.Glu183Gln