Canonical Allele Identifier: CA035162

Gene: RET

Linked Data

• ClinVar Variation Id: 477323
• ClinVar RCV Id: RCV000558252 ; RCV000561648 ; RCV000679722
• dbSNP Id: rs779915615
• ExAC: 10:43596003 G / A
• gnomAD v2: 10-43596003-G-A
• gnomAD v3: 10-43100555-G-A
• gnomAD v4: 10-43100555-G-A
• MyVariant Identifiers: chr10:g.43596003G>A (hg19) ; chr10:g.43100555G>A (hg38)
• PubMed: PMID:21490379

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100555G>A , CM000672.2:g.43100555G>A	GRCh38
NC_000010.10:g.43596003G>A , CM000672.1:g.43596003G>A	GRCh37
NC_000010.9:g.42916009G>A	NCBI36
NG_007489.1:g.28487G>A , LRG_518:g.28487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.170G>A	ENSP00000480088.2:p.Arg57Gln
ENST00000683278.1:c.72G>A
ENST00000684216.1:c.72G>A
ENST00000340058.6:c.170G>A	ENSP00000344798.4:p.Arg57Gln
ENST00000355710.8:c.170G>A MANE Select	ENSP00000347942.3:p.Arg57Gln
ENST00000638465.1:c.72G>A
ENST00000640619.1:c.72G>A
ENST00000671844.1:c.170G>A	ENSP00000500541.1:p.Arg57Gln
ENST00000672389.1:c.74-10652G>A	ENSP00000500252.1:n.74-10652G>A
ENST00000340058.5:c.170G>A	ENSP00000344798.4:p.Arg57Gln
ENST00000355710.7:c.170G>A	ENSP00000347942.3:p.Arg57Gln
ENST00000498820.5:c.74-11544G>A	ENSP00000419080.1:n.74-11544G>A
ENST00000615310.4:c.170G>A	ENSP00000480088.1:p.Arg57Gln
NM_020630.4:c.170G>A , LRG_518t2:c.170G>A	NP_065681.1:p.Arg57Gln
NM_020975.4:c.170G>A , LRG_518t1:c.170G>A	NP_066124.1:p.Arg57Gln
XM_011540027.1:c.170G>A	XP_011538329.1:p.Arg57Gln
NM_020630.5:c.170G>A	NP_065681.1:p.Arg57Gln
NM_020975.5:c.170G>A	NP_066124.1:p.Arg57Gln
NM_020975.6:c.170G>A MANE Select	NP_066124.1:p.Arg57Gln
NM_020630.6:c.170G>A	NP_065681.1:p.Arg57Gln