Canonical Allele Identifier: CA376549104
Community Standard Title: NM_020975.6(RET):c.1343A>G (p.Asn448Ser)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43111286A>G , CM000672.2:g.43111286A>G GRCh38
NC_000010.10:g.43606734A>G , CM000672.1:g.43606734A>G GRCh37
NC_000010.9:g.42926740A>G NCBI36
NG_007489.1:g.39218A>G , LRG_518:g.39218A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1343A>G MANE Select NP_066124.1:p.Asn448Ser
ENST00000355710.8:c.1343A>G MANE Select ENSP00000347942.3:p.Asn448Ser
NM_001355216.1:c.581A>G NP_001342145.1:p.Asn194Ser
NM_020630.4:c.1343A>G , LRG_518t2:c.1343A>G NP_065681.1:p.Asn448Ser
NM_020630.5:c.1343A>G NP_065681.1:p.Asn448Ser
NM_020630.6:c.1343A>G NP_065681.1:p.Asn448Ser
NM_020975.4:c.1343A>G , LRG_518t1:c.1343A>G NP_066124.1:p.Asn448Ser
NM_020975.5:c.1343A>G NP_066124.1:p.Asn448Ser
ENST00000340058.5:c.1343A>G ENSP00000344798.4:p.Asn448Ser
ENST00000340058.6:c.1343A>G ENSP00000344798.4:p.Asn448Ser
ENST00000355710.7:c.1343A>G ENSP00000347942.3:p.Asn448Ser
ENST00000498820.5:c.74-813A>G ENSP00000419080.1:n.74-813A>G
ENST00000615310.4:c.1289+54A>G ENSP00000480088.1:n.1289+54A>G
ENST00000615310.5:c.947A>G ENSP00000480088.2:p.Asn316Ser
ENST00000671844.1:c.705A>G ENSP00000500541.1:p.Gln235=
ENST00000672389.1:c.153A>G ENSP00000500252.1:p.Gln51=
ENST00000683007.1:n.917A>G
ENST00000683872.1:n.104A>G
XM_011540027.1:c.1343A>G XP_011538329.1:p.Asn448Ser