Canonical Allele Identifier: CA031414
Community Standard Title: NM_020975.6(RET):c.1083C>A (p.Asn361Lys)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43109050C>A , CM000672.2:g.43109050C>A GRCh38
NC_000010.10:g.43604498C>A , CM000672.1:g.43604498C>A GRCh37
NC_000010.9:g.42924504C>A NCBI36
NG_007489.1:g.36982C>A , LRG_518:g.36982C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1083C>A MANE Select NP_066124.1:p.Asn361Lys
ENST00000355710.8:c.1083C>A MANE Select ENSP00000347942.3:p.Asn361Lys
NM_001355216.1:c.321C>A NP_001342145.1:p.Asn107Lys
NM_020630.4:c.1083C>A , LRG_518t2:c.1083C>A NP_065681.1:p.Asn361Lys
NM_020630.5:c.1083C>A NP_065681.1:p.Asn361Lys
NM_020630.6:c.1083C>A NP_065681.1:p.Asn361Lys
NM_020975.4:c.1083C>A , LRG_518t1:c.1083C>A NP_066124.1:p.Asn361Lys
NM_020975.5:c.1083C>A NP_066124.1:p.Asn361Lys
ENST00000340058.5:c.1083C>A ENSP00000344798.4:p.Asn361Lys
ENST00000340058.6:c.1083C>A ENSP00000344798.4:p.Asn361Lys
ENST00000355710.7:c.1083C>A ENSP00000347942.3:p.Asn361Lys
ENST00000498820.5:c.74-3049C>A ENSP00000419080.1:n.74-3049C>A
ENST00000615310.4:c.1083C>A ENSP00000480088.1:p.Asn361Lys
ENST00000615310.5:c.868-2157C>A ENSP00000480088.2:n.868-2157C>A
ENST00000671844.1:c.626-2157C>A ENSP00000500541.1:n.626-2157C>A
ENST00000672389.1:c.74-2157C>A ENSP00000500252.1:n.74-2157C>A
ENST00000683007.1:n.657C>A
XM_011540027.1:c.1083C>A XP_011538329.1:p.Asn361Lys