Canonical Allele Identifier: CA1381057

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211479130T>G , CM000663.2:g.211479130T>G	GRCh38
NC_000001.10:g.211652472T>G , CM000663.1:g.211652472T>G	GRCh37
NC_000001.9:g.209719095T>G	NCBI36
NG_013042.1:g.18788A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.494A>C MANE Select	NP_001158160.1:p.Asp165Ala
ENST00000680073.1:c.494A>C MANE Select	ENSP00000505312.1:p.Asp165Ala
NM_001164688.1:c.494A>C	NP_001158160.1:p.Asp165Ala
NM_183059.2:c.494A>C	NP_898882.1:p.Asp165Ala
NM_183059.3:c.494A>C	NP_898882.1:p.Asp165Ala
ENST00000367002.4:c.494A>C	ENSP00000355969.4:p.Asp165Ala
ENST00000367002.5:c.494A>C	ENSP00000355969.4:p.Asp165Ala
ENST00000484910.1:n.462A>C
XM_011509479.1:c.494A>C	XP_011507781.1:p.Asp165Ala
XM_017001151.1:c.530A>C	XP_016856640.1:p.Asp177Ala