Canonical Allele Identifier: CA035793

Gene: RET

Linked Data

• ClinVar Variation Id: 659906
• ClinVar RCV Id: RCV002406865
• dbSNP Id: rs769971379
• ExAC: 10:43609084 G / A
• gnomAD v2: 10-43609084-G-A
• gnomAD v3: 10-43113636-G-A
• gnomAD v4: 10-43113636-G-A
• MyVariant Identifiers: chr10:g.43609084G>A (hg19) ; chr10:g.43113636G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113636G>A , CM000672.2:g.43113636G>A	GRCh38
NC_000010.10:g.43609084G>A , CM000672.1:g.43609084G>A	GRCh37
NC_000010.9:g.42929090G>A	NCBI36
NG_007489.1:g.41568G>A , LRG_518:g.41568G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1444G>A	ENSP00000480088.2:p.Glu482Lys
ENST00000683007.1:n.1414G>A
ENST00000683872.1:n.601G>A
ENST00000340058.6:c.1840G>A	ENSP00000344798.4:p.Glu614Lys
ENST00000355710.8:c.1840G>A MANE Select	ENSP00000347942.3:p.Glu614Lys
ENST00000671844.1:c.*434G>A	ENSP00000500541.1:n.*434G>A
ENST00000672389.1:c.*434G>A	ENSP00000500252.1:n.*434G>A
ENST00000340058.5:c.1840G>A	ENSP00000344798.4:p.Glu614Lys
ENST00000355710.7:c.1840G>A	ENSP00000347942.3:p.Glu614Lys
ENST00000498820.5:c.391G>A	ENSP00000419080.1:p.Glu131Lys
ENST00000615310.4:c.1289+2404G>A	ENSP00000480088.1:n.1289+2404G>A
NM_020630.4:c.1840G>A , LRG_518t2:c.1840G>A	NP_065681.1:p.Glu614Lys
NM_020975.4:c.1840G>A , LRG_518t1:c.1840G>A	NP_066124.1:p.Glu614Lys
XM_011540027.1:c.1840G>A	XP_011538329.1:p.Glu614Lys
NM_001355216.1:c.1078G>A	NP_001342145.1:p.Glu360Lys
NM_020630.5:c.1840G>A	NP_065681.1:p.Glu614Lys
NM_020975.5:c.1840G>A	NP_066124.1:p.Glu614Lys
NM_020975.6:c.1840G>A MANE Select	NP_066124.1:p.Glu614Lys
NM_020630.6:c.1840G>A	NP_065681.1:p.Glu614Lys