Canonical Allele Identifier: CA008238

Gene: RET

Linked Data

• ClinVar Variation Id: 549831
• ClinVar RCV Id: RCV000693624 ; RCV002406503 ; RCV003987652 ; RCV003459564
• dbSNP Id: rs55846256
• ExAC: 10:43609941 C / A
• gnomAD v2: 10-43609941-C-A
• gnomAD v3: 10-43114493-C-A
• gnomAD v4: 10-43114493-C-A
• MyVariant Identifiers: chr10:g.43609941C>A (hg19) ; chr10:g.43114493C>A (hg38)
• PubMed: PMID:1 ; PMID:150 ; PMID:471 ; PMID:715 ; PMID:839 ; PMID:858 ; PMID:14718397

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114493C>A , CM000672.2:g.43114493C>A	GRCh38
NC_000010.10:g.43609941C>A , CM000672.1:g.43609941C>A	GRCh37
NC_000010.9:g.42929947C>A	NCBI36
NG_007489.1:g.42425C>A , LRG_518:g.42425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1497C>A	ENSP00000480088.2:p.Asp499Glu
ENST00000683007.1:n.1467C>A
ENST00000683872.1:n.1458C>A
ENST00000340058.6:c.1893C>A	ENSP00000344798.4:p.Asp631Glu
ENST00000355710.8:c.1893C>A MANE Select	ENSP00000347942.3:p.Asp631Glu
ENST00000671844.1:c.*487C>A	ENSP00000500541.1:n.*487C>A
ENST00000672389.1:c.*487C>A	ENSP00000500252.1:n.*487C>A
ENST00000340058.5:c.1893C>A	ENSP00000344798.4:p.Asp631Glu
ENST00000355710.7:c.1893C>A	ENSP00000347942.3:p.Asp631Glu
ENST00000498820.5:c.444C>A	ENSP00000419080.1:p.Asp148Glu
ENST00000615310.4:c.1289+3261C>A	ENSP00000480088.1:n.1289+3261C>A
NM_020630.4:c.1893C>A , LRG_518t2:c.1893C>A	NP_065681.1:p.Asp631Glu
NM_020975.4:c.1893C>A , LRG_518t1:c.1893C>A	NP_066124.1:p.Asp631Glu
XM_011540027.1:c.1893C>A	XP_011538329.1:p.Asp631Glu
NM_001355216.1:c.1131C>A	NP_001342145.1:p.Asp377Glu
NM_020630.5:c.1893C>A	NP_065681.1:p.Asp631Glu
NM_020975.5:c.1893C>A	NP_066124.1:p.Asp631Glu
NM_020975.6:c.1893C>A MANE Select	NP_066124.1:p.Asp631Glu
NM_020630.6:c.1893C>A	NP_065681.1:p.Asp631Glu