Canonical Allele Identifier: CA1381036

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211479037C>G , CM000663.2:g.211479037C>G	GRCh38
NC_000001.10:g.211652379C>G , CM000663.1:g.211652379C>G	GRCh37
NC_000001.9:g.209719002C>G	NCBI36
NG_013042.1:g.18881G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.587G>C MANE Select	NP_001158160.1:p.Ter196Ser
ENST00000680073.1:c.587G>C MANE Select	ENSP00000505312.1:p.Ter196Ser
NM_001164688.1:c.587G>C	NP_001158160.1:p.Ter196Ser
NM_183059.2:c.587G>C	NP_898882.1:p.Ter196Ser
NM_183059.3:c.587G>C	NP_898882.1:p.Ter196Ser
ENST00000367002.4:c.587G>C	ENSP00000355969.4:p.Ter196Ser
ENST00000367002.5:c.587G>C	ENSP00000355969.4:p.Ter196Ser
ENST00000484910.1:n.555G>C
XM_011509479.1:c.587G>C	XP_011507781.1:p.Ter196Ser
XM_017001151.1:c.623G>C	XP_016856640.1:p.Ter208Ser