Canonical Allele Identifier: CA376553259

Gene: RET

Linked Data

• ClinVar Variation Id: 1785450
• ClinVar RCV Id: RCV002422199 ; RCV003098599
• dbSNP Id: rs1403143093
• gnomAD v4: 10-43114675-C-A
• MyVariant Identifiers: chr10:g.43610123C>A (hg19) ; chr10:g.43114675C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114675C>A , CM000672.2:g.43114675C>A	GRCh38
NC_000010.10:g.43610123C>A , CM000672.1:g.43610123C>A	GRCh37
NC_000010.9:g.42930129C>A	NCBI36
NG_007489.1:g.42607C>A , LRG_518:g.42607C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1679C>A	ENSP00000480088.2:p.Ala560Asp
ENST00000683007.1:n.1649C>A
ENST00000683872.1:n.1640C>A
ENST00000340058.6:c.2075C>A	ENSP00000344798.4:p.Ala692Asp
ENST00000355710.8:c.2075C>A MANE Select	ENSP00000347942.3:p.Ala692Asp
ENST00000671844.1:c.*669C>A	ENSP00000500541.1:n.*669C>A
ENST00000672389.1:c.*669C>A	ENSP00000500252.1:n.*669C>A
ENST00000340058.5:c.2075C>A	ENSP00000344798.4:p.Ala692Asp
ENST00000355710.7:c.2075C>A	ENSP00000347942.3:p.Ala692Asp
ENST00000615310.4:c.1289+3443C>A	ENSP00000480088.1:n.1289+3443C>A
NM_020630.4:c.2075C>A , LRG_518t2:c.2075C>A	NP_065681.1:p.Ala692Asp
NM_020975.4:c.2075C>A , LRG_518t1:c.2075C>A	NP_066124.1:p.Ala692Asp
XM_011540027.1:c.2075C>A	XP_011538329.1:p.Ala692Asp
NM_001355216.1:c.1313C>A	NP_001342145.1:p.Ala438Asp
NM_020630.5:c.2075C>A	NP_065681.1:p.Ala692Asp
NM_020975.5:c.2075C>A	NP_066124.1:p.Ala692Asp
NM_020975.6:c.2075C>A MANE Select	NP_066124.1:p.Ala692Asp
NM_020630.6:c.2075C>A	NP_065681.1:p.Ala692Asp