Canonical Allele Identifier: CA37186074

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211476585T>G , CM000663.2:g.211476585T>G	GRCh38
NC_000001.10:g.211649927T>G , CM000663.1:g.211649927T>G	GRCh37
NC_000001.9:g.209716550T>G	NCBI36
NG_013042.1:g.21333A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.*2451A>C MANE Select	NP_001158160.1:n.*2451A>C
ENST00000680073.1:c.*2451A>C MANE Select	ENSP00000505312.1:n.*2451A>C
NM_001164688.1:c.*2451A>C	NP_001158160.1:n.*2451A>C
NM_183059.2:c.*2451A>C	NP_898882.1:n.*2451A>C
NM_183059.3:c.*2451A>C	NP_898882.1:n.*2451A>C
ENST00000367002.4:c.*2451A>C	ENSP00000355969.4:n.*2451A>C
ENST00000367002.5:c.*2451A>C	ENSP00000355969.4:n.*2451A>C
ENST00000484910.1:n.3007A>C
XM_011509479.1:c.*2451A>C	XP_011507781.1:n.*2451A>C
XM_017001151.1:c.*2451A>C	XP_016856640.1:n.*2451A>C