Canonical Allele Identifier: CA010953

Gene: RET

Linked Data

• ClinVar Variation Id: 201136
• ClinVar RCV Id: RCV000463602 ; RCV000662469 ; RCV000456051 ; RCV001019923 ; RCV002478618 ; RCV003462290
• dbSNP Id: rs532862288
• ExAC: 10:43623686 C / T
• gnomAD v2: 10-43623686-C-T
• gnomAD v3: 10-43128238-C-T
• gnomAD v4: 10-43128238-C-T
• MyVariant Identifiers: chr10:g.43623686C>T (hg19) ; chr10:g.43128238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43128238C>T , CM000672.2:g.43128238C>T	GRCh38
NC_000010.10:g.43623686C>T , CM000672.1:g.43623686C>T	GRCh37
NC_000010.9:g.42943692C>T	NCBI36
NG_007489.1:g.56170C>T , LRG_518:g.56170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.*1484C>T	ENSP00000480088.2:n.*1484C>T
ENST00000683007.1:n.4277C>T
ENST00000355710.8:c.3314C>T MANE Select	ENSP00000347942.3:p.Ala1105Val
ENST00000355710.7:c.3314C>T	ENSP00000347942.3:p.Ala1105Val
ENST00000615310.4:c.*663C>T	ENSP00000480088.1:n.*663C>T
NM_020975.4:c.3314C>T , LRG_518t1:c.3314C>T	NP_066124.1:p.Ala1105Val
XM_011540027.1:c.3314C>T	XP_011538329.1:p.Ala1105Val
NM_020975.5:c.3314C>T	NP_066124.1:p.Ala1105Val
NM_020975.6:c.3314C>T MANE Select	NP_066124.1:p.Ala1105Val