Canonical Allele Identifier: CA206256814
Community Standard Title: NM_020975.6(RET):c.740C>T (p.Ala247Val)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43105066C>T , CM000672.2:g.43105066C>T GRCh38
NC_000010.10:g.43600514C>T , CM000672.1:g.43600514C>T GRCh37
NC_000010.9:g.42920520C>T NCBI36
NG_007489.1:g.32998C>T , LRG_518:g.32998C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.740C>T MANE Select NP_066124.1:p.Ala247Val
ENST00000355710.8:c.740C>T MANE Select ENSP00000347942.3:p.Ala247Val
NM_001355216.1:c.-23C>T NP_001342145.1:n.-23C>T
NM_020630.4:c.740C>T , LRG_518t2:c.740C>T NP_065681.1:p.Ala247Val
NM_020630.5:c.740C>T NP_065681.1:p.Ala247Val
NM_020630.6:c.740C>T NP_065681.1:p.Ala247Val
NM_020975.4:c.740C>T , LRG_518t1:c.740C>T NP_066124.1:p.Ala247Val
NM_020975.5:c.740C>T NP_066124.1:p.Ala247Val
ENST00000340058.5:c.740C>T ENSP00000344798.4:p.Ala247Val
ENST00000340058.6:c.740C>T ENSP00000344798.4:p.Ala247Val
ENST00000355710.7:c.740C>T ENSP00000347942.3:p.Ala247Val
ENST00000479913.1:n.335C>T
ENST00000498820.5:c.74-7033C>T ENSP00000419080.1:n.74-7033C>T
ENST00000615310.4:c.740C>T ENSP00000480088.1:p.Ala247Val
ENST00000615310.5:c.740C>T ENSP00000480088.2:p.Ala247Val
ENST00000671844.1:c.625+2437C>T ENSP00000500541.1:n.625+2437C>T
ENST00000672389.1:c.74-6141C>T ENSP00000500252.1:n.74-6141C>T
ENST00000683007.1:n.314C>T
XM_011540027.1:c.740C>T XP_011538329.1:p.Ala247Val