Canonical Allele Identifier: CA376552800

Gene: RET

Linked Data

• ClinVar Variation Id: 1370424
• ClinVar RCV Id: RCV001877157
• dbSNP Id: rs1393753095
• gnomAD v2: 10-43609090-G-A
• gnomAD v4: 10-43113642-G-A
• MyVariant Identifiers: chr10:g.43609090G>A (hg19) ; chr10:g.43113642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113642G>A , CM000672.2:g.43113642G>A	GRCh38
NC_000010.10:g.43609090G>A , CM000672.1:g.43609090G>A	GRCh37
NC_000010.9:g.42929096G>A	NCBI36
NG_007489.1:g.41574G>A , LRG_518:g.41574G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1450G>A	ENSP00000480088.2:p.Glu484Lys
ENST00000683007.1:n.1420G>A
ENST00000683872.1:n.607G>A
ENST00000340058.6:c.1846G>A	ENSP00000344798.4:p.Glu616Lys
ENST00000355710.8:c.1846G>A MANE Select	ENSP00000347942.3:p.Glu616Lys
ENST00000671844.1:c.*440G>A	ENSP00000500541.1:n.*440G>A
ENST00000672389.1:c.*440G>A	ENSP00000500252.1:n.*440G>A
ENST00000340058.5:c.1846G>A	ENSP00000344798.4:p.Glu616Lys
ENST00000355710.7:c.1846G>A	ENSP00000347942.3:p.Glu616Lys
ENST00000498820.5:c.397G>A	ENSP00000419080.1:p.Glu133Lys
ENST00000615310.4:c.1289+2410G>A	ENSP00000480088.1:n.1289+2410G>A
NM_020630.4:c.1846G>A , LRG_518t2:c.1846G>A	NP_065681.1:p.Glu616Lys
NM_020975.4:c.1846G>A , LRG_518t1:c.1846G>A	NP_066124.1:p.Glu616Lys
XM_011540027.1:c.1846G>A	XP_011538329.1:p.Glu616Lys
NM_001355216.1:c.1084G>A	NP_001342145.1:p.Glu362Lys
NM_020630.5:c.1846G>A	NP_065681.1:p.Glu616Lys
NM_020975.5:c.1846G>A	NP_066124.1:p.Glu616Lys
NM_020975.6:c.1846G>A MANE Select	NP_066124.1:p.Glu616Lys
NM_020630.6:c.1846G>A	NP_065681.1:p.Glu616Lys