Canonical Allele Identifier: CA376543291
Community Standard Title: NM_020975.6(RET):c.505G>C (p.Glu169Gln)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43102509G>C , CM000672.2:g.43102509G>C GRCh38
NC_000010.10:g.43597957G>C , CM000672.1:g.43597957G>C GRCh37
NC_000010.9:g.42917963G>C NCBI36
NG_007489.1:g.30441G>C , LRG_518:g.30441G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.505G>C MANE Select NP_066124.1:p.Glu169Gln
ENST00000355710.8:c.505G>C MANE Select ENSP00000347942.3:p.Glu169Gln
NM_020630.4:c.505G>C , LRG_518t2:c.505G>C NP_065681.1:p.Glu169Gln
NM_020630.5:c.505G>C NP_065681.1:p.Glu169Gln
NM_020630.6:c.505G>C NP_065681.1:p.Glu169Gln
NM_020975.4:c.505G>C , LRG_518t1:c.505G>C NP_066124.1:p.Glu169Gln
NM_020975.5:c.505G>C NP_066124.1:p.Glu169Gln
ENST00000340058.5:c.505G>C ENSP00000344798.4:p.Glu169Gln
ENST00000340058.6:c.505G>C ENSP00000344798.4:p.Glu169Gln
ENST00000355710.7:c.505G>C ENSP00000347942.3:p.Glu169Gln
ENST00000498820.5:c.74-9590G>C ENSP00000419080.1:n.74-9590G>C
ENST00000615310.4:c.505G>C ENSP00000480088.1:p.Glu169Gln
ENST00000615310.5:c.505G>C ENSP00000480088.2:p.Glu169Gln
ENST00000638465.1:c.447G>C
ENST00000640619.1:c.278G>C
ENST00000671844.1:c.505G>C ENSP00000500541.1:p.Glu169Gln
ENST00000672389.1:c.74-8698G>C ENSP00000500252.1:n.74-8698G>C
ENST00000683278.1:c.426G>C
ENST00000684216.1:c.407G>C
XM_011540027.1:c.505G>C XP_011538329.1:p.Glu169Gln