Canonical Allele Identifier: CA054755

Gene: RET

Linked Data

• ClinVar Variation Id: 543760
• ClinVar RCV Id: RCV000654601 ; RCV000663067 ; RCV001019124 ; RCV002284419 ; RCV002507130
• dbSNP Id: rs775583354
• ExAC: 10:43623571 C / T
• gnomAD v2: 10-43623571-C-T
• gnomAD v3: 10-43128123-C-T
• gnomAD v4: 10-43128123-C-T
• MyVariant Identifiers: chr10:g.43623571C>T (hg19) ; chr10:g.43128123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43128123C>T , CM000672.2:g.43128123C>T	GRCh38
NC_000010.10:g.43623571C>T , CM000672.1:g.43623571C>T	GRCh37
NC_000010.9:g.42943577C>T	NCBI36
NG_007489.1:g.56055C>T , LRG_518:g.56055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.*1369C>T	ENSP00000480088.2:n.*1369C>T
ENST00000683007.1:n.4162C>T
ENST00000355710.8:c.3199C>T MANE Select	ENSP00000347942.3:p.Pro1067Ser
ENST00000355710.7:c.3199C>T	ENSP00000347942.3:p.Pro1067Ser
ENST00000615310.4:c.*548C>T	ENSP00000480088.1:n.*548C>T
NM_020975.4:c.3199C>T , LRG_518t1:c.3199C>T	NP_066124.1:p.Pro1067Ser
XM_011540027.1:c.3199C>T	XP_011538329.1:p.Pro1067Ser
NM_020975.5:c.3199C>T	NP_066124.1:p.Pro1067Ser
NM_020975.6:c.3199C>T MANE Select	NP_066124.1:p.Pro1067Ser