Canonical Allele Identifier: CA376770718
Community Standard Title: NM_020975.6(RET):c.388A>G (p.Thr130Ala)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43102392A>G , CM000672.2:g.43102392A>G GRCh38
NC_000010.10:g.43597840A>G , CM000672.1:g.43597840A>G GRCh37
NC_000010.9:g.42917846A>G NCBI36
NG_007489.1:g.30324A>G , LRG_518:g.30324A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.388A>G MANE Select NP_066124.1:p.Thr130Ala
ENST00000355710.8:c.388A>G MANE Select ENSP00000347942.3:p.Thr130Ala
NM_020630.4:c.388A>G , LRG_518t2:c.388A>G NP_065681.1:p.Thr130Ala
NM_020630.5:c.388A>G NP_065681.1:p.Thr130Ala
NM_020630.6:c.388A>G NP_065681.1:p.Thr130Ala
NM_020975.4:c.388A>G , LRG_518t1:c.388A>G NP_066124.1:p.Thr130Ala
NM_020975.5:c.388A>G NP_066124.1:p.Thr130Ala
ENST00000340058.5:c.388A>G ENSP00000344798.4:p.Thr130Ala
ENST00000340058.6:c.388A>G ENSP00000344798.4:p.Thr130Ala
ENST00000355710.7:c.388A>G ENSP00000347942.3:p.Thr130Ala
ENST00000498820.5:c.74-9707A>G ENSP00000419080.1:n.74-9707A>G
ENST00000615310.4:c.388A>G ENSP00000480088.1:p.Thr130Ala
ENST00000615310.5:c.388A>G ENSP00000480088.2:p.Thr130Ala
ENST00000638465.1:c.330A>G
ENST00000640619.1:c.240-79A>G
ENST00000671844.1:c.388A>G ENSP00000500541.1:p.Thr130Ala
ENST00000672389.1:c.74-8815A>G ENSP00000500252.1:n.74-8815A>G
ENST00000683278.1:c.309A>G
ENST00000684216.1:c.290A>G
XM_011540027.1:c.388A>G XP_011538329.1:p.Thr130Ala