Canonical Allele Identifier: CA376555923

Gene: RET

Linked Data

• ClinVar Variation Id: 2735392
• ClinVar RCV Id: RCV003531557
• dbSNP Id: rs2132932061
• gnomAD v4: 10-43118473-C-A
• MyVariant Identifiers: chr10:g.43613921C>A (hg19) ; chr10:g.43118473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43118473C>A , CM000672.2:g.43118473C>A	GRCh38
NC_000010.10:g.43613921C>A , CM000672.1:g.43613921C>A	GRCh37
NC_000010.9:g.42933927C>A	NCBI36
NG_007489.1:g.46405C>A , LRG_518:g.46405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1989C>A	ENSP00000480088.2:p.Ser663Arg
ENST00000683007.1:n.1959C>A
ENST00000683872.1:n.1950C>A
ENST00000340058.6:c.2385C>A	ENSP00000344798.4:p.Ser795Arg
ENST00000355710.8:c.2385C>A MANE Select	ENSP00000347942.3:p.Ser795Arg
ENST00000671844.1:c.*979C>A	ENSP00000500541.1:n.*979C>A
ENST00000672389.1:c.*979C>A	ENSP00000500252.1:n.*979C>A
ENST00000340058.5:c.2385C>A	ENSP00000344798.4:p.Ser795Arg
ENST00000355710.7:c.2385C>A	ENSP00000347942.3:p.Ser795Arg
ENST00000615310.4:c.1290-1229C>A	ENSP00000480088.1:n.1290-1229C>A
NM_020630.4:c.2385C>A , LRG_518t2:c.2385C>A	NP_065681.1:p.Ser795Arg
NM_020975.4:c.2385C>A , LRG_518t1:c.2385C>A	NP_066124.1:p.Ser795Arg
XM_011540027.1:c.2385C>A	XP_011538329.1:p.Ser795Arg
NM_001355216.1:c.1623C>A	NP_001342145.1:p.Ser541Arg
NM_020630.5:c.2385C>A	NP_065681.1:p.Ser795Arg
NM_020975.5:c.2385C>A	NP_066124.1:p.Ser795Arg
NM_020975.6:c.2385C>A MANE Select	NP_066124.1:p.Ser795Arg
NM_020630.6:c.2385C>A	NP_065681.1:p.Ser795Arg