Canonical Allele Identifier: CA037237

Gene: RET

Linked Data

• ClinVar Variation Id: 486299
• ClinVar RCV Id: RCV000567163 ; RCV000654642 ; RCV004543269
• dbSNP Id: rs747166722
• ExAC: 10:43610127 C / G
• gnomAD v2: 10-43610127-C-G
• gnomAD v3: 10-43114679-C-G
• gnomAD v4: 10-43114679-C-G
• MyVariant Identifiers: chr10:g.43610127C>G (hg19) ; chr10:g.43114679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114679C>G , CM000672.2:g.43114679C>G	GRCh38
NC_000010.10:g.43610127C>G , CM000672.1:g.43610127C>G	GRCh37
NC_000010.9:g.42930133C>G	NCBI36
NG_007489.1:g.42611C>G , LRG_518:g.42611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1683C>G	ENSP00000480088.2:p.Arg561=
ENST00000683007.1:n.1653C>G
ENST00000683872.1:n.1644C>G
ENST00000340058.6:c.2079C>G	ENSP00000344798.4:p.Arg693=
ENST00000355710.8:c.2079C>G MANE Select	ENSP00000347942.3:p.Arg693=
ENST00000671844.1:c.*673C>G	ENSP00000500541.1:n.*673C>G
ENST00000672389.1:c.*673C>G	ENSP00000500252.1:n.*673C>G
ENST00000340058.5:c.2079C>G	ENSP00000344798.4:p.Arg693=
ENST00000355710.7:c.2079C>G	ENSP00000347942.3:p.Arg693=
ENST00000615310.4:c.1289+3447C>G	ENSP00000480088.1:n.1289+3447C>G
NM_020630.4:c.2079C>G , LRG_518t2:c.2079C>G	NP_065681.1:p.Arg693=
NM_020975.4:c.2079C>G , LRG_518t1:c.2079C>G	NP_066124.1:p.Arg693=
XM_011540027.1:c.2079C>G	XP_011538329.1:p.Arg693=
NM_001355216.1:c.1317C>G	NP_001342145.1:p.Arg439=
NM_020630.5:c.2079C>G	NP_065681.1:p.Arg693=
NM_020975.5:c.2079C>G	NP_066124.1:p.Arg693=
NM_020975.6:c.2079C>G MANE Select	NP_066124.1:p.Arg693=
NM_020630.6:c.2079C>G	NP_065681.1:p.Arg693=