Canonical Allele Identifier: CA376543472
Community Standard Title: NM_020975.6(RET):c.555C>G (p.Phe185Leu)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43102559C>G , CM000672.2:g.43102559C>G GRCh38
NC_000010.10:g.43598007C>G , CM000672.1:g.43598007C>G GRCh37
NC_000010.9:g.42918013C>G NCBI36
NG_007489.1:g.30491C>G , LRG_518:g.30491C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.555C>G MANE Select NP_066124.1:p.Phe185Leu
ENST00000355710.8:c.555C>G MANE Select ENSP00000347942.3:p.Phe185Leu
NM_020630.4:c.555C>G , LRG_518t2:c.555C>G NP_065681.1:p.Phe185Leu
NM_020630.5:c.555C>G NP_065681.1:p.Phe185Leu
NM_020630.6:c.555C>G NP_065681.1:p.Phe185Leu
NM_020975.4:c.555C>G , LRG_518t1:c.555C>G NP_066124.1:p.Phe185Leu
NM_020975.5:c.555C>G NP_066124.1:p.Phe185Leu
ENST00000340058.5:c.555C>G ENSP00000344798.4:p.Phe185Leu
ENST00000340058.6:c.555C>G ENSP00000344798.4:p.Phe185Leu
ENST00000355710.7:c.555C>G ENSP00000347942.3:p.Phe185Leu
ENST00000498820.5:c.74-9540C>G ENSP00000419080.1:n.74-9540C>G
ENST00000615310.4:c.555C>G ENSP00000480088.1:p.Phe185Leu
ENST00000615310.5:c.555C>G ENSP00000480088.2:p.Phe185Leu
ENST00000638465.1:c.497C>G
ENST00000640619.1:c.328C>G
ENST00000671844.1:c.555C>G ENSP00000500541.1:p.Phe185Leu
ENST00000672389.1:c.74-8648C>G ENSP00000500252.1:n.74-8648C>G
ENST00000683278.1:c.476C>G
ENST00000684216.1:c.457C>G
XM_011540027.1:c.555C>G XP_011538329.1:p.Phe185Leu