Canonical Allele Identifier: CA10609690

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211476955G>A , CM000663.2:g.211476955G>A	GRCh38
NC_000001.10:g.211650297G>A , CM000663.1:g.211650297G>A	GRCh37
NC_000001.9:g.209716920G>A	NCBI36
NG_013042.1:g.20963C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001164688.2:c.*2081C>T MANE Select	NP_001158160.1:n.*2081C>T
ENST00000680073.1:c.*2081C>T MANE Select	ENSP00000505312.1:n.*2081C>T
NM_001164688.1:c.*2081C>T	NP_001158160.1:n.*2081C>T
NM_183059.2:c.*2081C>T	NP_898882.1:n.*2081C>T
NM_183059.3:c.*2081C>T	NP_898882.1:n.*2081C>T
ENST00000367002.4:c.*2081C>T	ENSP00000355969.4:n.*2081C>T
ENST00000367002.5:c.*2081C>T	ENSP00000355969.4:n.*2081C>T
ENST00000484910.1:n.2637C>T
XM_011509479.1:c.*2081C>T	XP_011507781.1:n.*2081C>T
XM_017001151.1:c.*2081C>T	XP_016856640.1:n.*2081C>T