Canonical Allele Identifier: CA376545199
Community Standard Title: NM_020975.6(RET):c.818C>A (p.Pro273His)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43105144C>A , CM000672.2:g.43105144C>A GRCh38
NC_000010.10:g.43600592C>A , CM000672.1:g.43600592C>A GRCh37
NC_000010.9:g.42920598C>A NCBI36
NG_007489.1:g.33076C>A , LRG_518:g.33076C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.818C>A MANE Select NP_066124.1:p.Pro273His
ENST00000355710.8:c.818C>A MANE Select ENSP00000347942.3:p.Pro273His
NM_001355216.1:c.56C>A NP_001342145.1:p.Pro19His
NM_020630.4:c.818C>A , LRG_518t2:c.818C>A NP_065681.1:p.Pro273His
NM_020630.5:c.818C>A NP_065681.1:p.Pro273His
NM_020630.6:c.818C>A NP_065681.1:p.Pro273His
NM_020975.4:c.818C>A , LRG_518t1:c.818C>A NP_066124.1:p.Pro273His
NM_020975.5:c.818C>A NP_066124.1:p.Pro273His
ENST00000340058.5:c.818C>A ENSP00000344798.4:p.Pro273His
ENST00000340058.6:c.818C>A ENSP00000344798.4:p.Pro273His
ENST00000355710.7:c.818C>A ENSP00000347942.3:p.Pro273His
ENST00000479913.1:n.413C>A
ENST00000498820.5:c.74-6955C>A ENSP00000419080.1:n.74-6955C>A
ENST00000615310.4:c.818C>A ENSP00000480088.1:p.Pro273His
ENST00000615310.5:c.818C>A ENSP00000480088.2:p.Pro273His
ENST00000671844.1:c.625+2515C>A ENSP00000500541.1:n.625+2515C>A
ENST00000672389.1:c.74-6063C>A ENSP00000500252.1:n.74-6063C>A
ENST00000683007.1:n.392C>A
XM_011540027.1:c.818C>A XP_011538329.1:p.Pro273His