Canonical Allele Identifier: CA376544830
Community Standard Title: NM_020975.6(RET):c.742G>A (p.Gly248Ser)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43105068G>A , CM000672.2:g.43105068G>A GRCh38
NC_000010.10:g.43600516G>A , CM000672.1:g.43600516G>A GRCh37
NC_000010.9:g.42920522G>A NCBI36
NG_007489.1:g.33000G>A , LRG_518:g.33000G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.742G>A MANE Select NP_066124.1:p.Gly248Ser
ENST00000355710.8:c.742G>A MANE Select ENSP00000347942.3:p.Gly248Ser
NM_001355216.1:c.-21G>A NP_001342145.1:n.-21G>A
NM_020630.4:c.742G>A , LRG_518t2:c.742G>A NP_065681.1:p.Gly248Ser
NM_020630.5:c.742G>A NP_065681.1:p.Gly248Ser
NM_020630.6:c.742G>A NP_065681.1:p.Gly248Ser
NM_020975.4:c.742G>A , LRG_518t1:c.742G>A NP_066124.1:p.Gly248Ser
NM_020975.5:c.742G>A NP_066124.1:p.Gly248Ser
ENST00000340058.5:c.742G>A ENSP00000344798.4:p.Gly248Ser
ENST00000340058.6:c.742G>A ENSP00000344798.4:p.Gly248Ser
ENST00000355710.7:c.742G>A ENSP00000347942.3:p.Gly248Ser
ENST00000479913.1:n.337G>A
ENST00000498820.5:c.74-7031G>A ENSP00000419080.1:n.74-7031G>A
ENST00000615310.4:c.742G>A ENSP00000480088.1:p.Gly248Ser
ENST00000615310.5:c.742G>A ENSP00000480088.2:p.Gly248Ser
ENST00000671844.1:c.625+2439G>A ENSP00000500541.1:n.625+2439G>A
ENST00000672389.1:c.74-6139G>A ENSP00000500252.1:n.74-6139G>A
ENST00000683007.1:n.316G>A
XM_011540027.1:c.742G>A XP_011538329.1:p.Gly248Ser