Canonical Allele Identifier: CA039164

Gene: RET

Linked Data

• ClinVar Variation Id: 659223
• ClinVar RCV Id: RCV000816192 ; RCV002442735
• dbSNP Id: rs767945255
• ExAC: 10:43615009 A / C
• gnomAD v2: 10-43615009-A-C
• gnomAD v3: 10-43119561-A-C
• gnomAD v4: 10-43119561-A-C
• MyVariant Identifiers: chr10:g.43615009A>C (hg19) ; chr10:g.43119561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119561A>C , CM000672.2:g.43119561A>C	GRCh38
NC_000010.10:g.43615009A>C , CM000672.1:g.43615009A>C	GRCh37
NC_000010.9:g.42935015A>C	NCBI36
NG_007489.1:g.47493A>C , LRG_518:g.47493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2027A>C	ENSP00000480088.2:p.Lys676Thr
ENST00000683007.1:n.1997A>C
ENST00000683872.1:n.1988A>C
ENST00000340058.6:c.2423A>C	ENSP00000344798.4:p.Lys808Thr
ENST00000355710.8:c.2423A>C MANE Select	ENSP00000347942.3:p.Lys808Thr
ENST00000671844.1:c.*1017A>C	ENSP00000500541.1:n.*1017A>C
ENST00000672389.1:c.*1017A>C	ENSP00000500252.1:n.*1017A>C
ENST00000340058.5:c.2423A>C	ENSP00000344798.4:p.Lys808Thr
ENST00000355710.7:c.2423A>C	ENSP00000347942.3:p.Lys808Thr
ENST00000615310.4:c.1290-141A>C	ENSP00000480088.1:n.1290-141A>C
NM_020630.4:c.2423A>C , LRG_518t2:c.2423A>C	NP_065681.1:p.Lys808Thr
NM_020975.4:c.2423A>C , LRG_518t1:c.2423A>C	NP_066124.1:p.Lys808Thr
XM_011540027.1:c.2423A>C	XP_011538329.1:p.Lys808Thr
NM_001355216.1:c.1661A>C	NP_001342145.1:p.Lys554Thr
NM_020630.5:c.2423A>C	NP_065681.1:p.Lys808Thr
NM_020975.5:c.2423A>C	NP_066124.1:p.Lys808Thr
NM_020975.6:c.2423A>C MANE Select	NP_066124.1:p.Lys808Thr
NM_020630.6:c.2423A>C	NP_065681.1:p.Lys808Thr