Canonical Allele Identifier: CA041809
Community Standard Title: NM_020975.6(RET):c.2945G>A (p.Arg982His)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43124888G>A , CM000672.2:g.43124888G>A GRCh38
NC_000010.10:g.43620336G>A , CM000672.1:g.43620336G>A GRCh37
NC_000010.9:g.42940342G>A NCBI36
NG_007489.1:g.52820G>A , LRG_518:g.52820G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.2945G>A MANE Select NP_066124.1:p.Arg982His
ENST00000355710.8:c.2945G>A MANE Select ENSP00000347942.3:p.Arg982His
NM_001355216.1:c.2183G>A NP_001342145.1:p.Arg728His
NM_020630.4:c.2945G>A , LRG_518t2:c.2945G>A NP_065681.1:p.Arg982His
NM_020630.5:c.2945G>A NP_065681.1:p.Arg982His
NM_020630.6:c.2945G>A NP_065681.1:p.Arg982His
NM_020975.4:c.2945G>A , LRG_518t1:c.2945G>A NP_066124.1:p.Arg982His
NM_020975.5:c.2945G>A NP_066124.1:p.Arg982His
ENST00000340058.5:c.2945G>A ENSP00000344798.4:p.Arg982His
ENST00000340058.6:c.2945G>A ENSP00000344798.4:p.Arg982His
ENST00000355710.7:c.2945G>A ENSP00000347942.3:p.Arg982His
ENST00000615310.4:c.*294G>A ENSP00000480088.1:n.*294G>A
ENST00000615310.5:c.2549G>A ENSP00000480088.2:p.Arg850His
ENST00000671844.1:c.*1539G>A ENSP00000500541.1:n.*1539G>A
ENST00000672389.1:c.*1539G>A ENSP00000500252.1:n.*1539G>A
ENST00000683007.1:n.2519G>A
XM_011540027.1:c.2945G>A XP_011538329.1:p.Arg982His