Canonical Allele Identifier: CA344878944

Gene: RD3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211479238A>T , CM000663.2:g.211479238A>T	GRCh38
NC_000001.10:g.211652580A>T , CM000663.1:g.211652580A>T	GRCh37
NC_000001.9:g.209719203A>T	NCBI36
NG_013042.1:g.18680T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367002.5:c.386T>A	ENSP00000355969.4:p.Met129Lys
ENST00000680073.1:c.386T>A MANE Select	ENSP00000505312.1:p.Met129Lys
ENST00000367002.4:c.386T>A	ENSP00000355969.4:p.Met129Lys
ENST00000484910.1:n.354T>A
NM_001164688.1:c.386T>A	NP_001158160.1:p.Met129Lys
NM_183059.2:c.386T>A	NP_898882.1:p.Met129Lys
XM_011509479.1:c.386T>A	XP_011507781.1:p.Met129Lys
XM_017001151.1:c.422T>A	XP_016856640.1:p.Met141Lys
NM_183059.3:c.386T>A	NP_898882.1:p.Met129Lys
NM_001164688.2:c.386T>A MANE Select	NP_001158160.1:p.Met129Lys