Canonical Allele Identifier: CA376770156

Gene: RET

Linked Data

• ClinVar Variation Id: 818716
• ClinVar RCV Id: RCV001010592 ; RCV003532346
• dbSNP Id: rs1488040686
• gnomAD v2: 10-43595962-C-A
• gnomAD v3: 10-43100514-C-A
• gnomAD v4: 10-43100514-C-A
• MyVariant Identifiers: chr10:g.43595962C>A (hg19) ; chr10:g.43100514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100514C>A , CM000672.2:g.43100514C>A	GRCh38
NC_000010.10:g.43595962C>A , CM000672.1:g.43595962C>A	GRCh37
NC_000010.9:g.42915968C>A	NCBI36
NG_007489.1:g.28446C>A , LRG_518:g.28446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.129C>A	ENSP00000480088.2:p.Asp43Glu
ENST00000683278.1:c.31C>A
ENST00000684216.1:c.31C>A
ENST00000340058.6:c.129C>A	ENSP00000344798.4:p.Asp43Glu
ENST00000355710.8:c.129C>A MANE Select	ENSP00000347942.3:p.Asp43Glu
ENST00000638465.1:c.31C>A
ENST00000640619.1:c.31C>A
ENST00000671844.1:c.129C>A	ENSP00000500541.1:p.Asp43Glu
ENST00000672389.1:c.74-10693C>A	ENSP00000500252.1:n.74-10693C>A
ENST00000340058.5:c.129C>A	ENSP00000344798.4:p.Asp43Glu
ENST00000355710.7:c.129C>A	ENSP00000347942.3:p.Asp43Glu
ENST00000498820.5:c.74-11585C>A	ENSP00000419080.1:n.74-11585C>A
ENST00000615310.4:c.129C>A	ENSP00000480088.1:p.Asp43Glu
NM_020630.4:c.129C>A , LRG_518t2:c.129C>A	NP_065681.1:p.Asp43Glu
NM_020975.4:c.129C>A , LRG_518t1:c.129C>A	NP_066124.1:p.Asp43Glu
XM_011540027.1:c.129C>A	XP_011538329.1:p.Asp43Glu
NM_020630.5:c.129C>A	NP_065681.1:p.Asp43Glu
NM_020975.5:c.129C>A	NP_066124.1:p.Asp43Glu
NM_020975.6:c.129C>A MANE Select	NP_066124.1:p.Asp43Glu
NM_020630.6:c.129C>A	NP_065681.1:p.Asp43Glu