Canonical Allele Identifier: CA10631688

Gene: RET

Linked Data

• ClinVar Variation Id: 299935
• ClinVar RCV Id: RCV000276991 ; RCV000293204 ; RCV000331932 ; RCV000386482
• dbSNP Id: rs142572876
• gnomAD v2: 10-43625275-A-C
• gnomAD v3: 10-43129827-A-C
• gnomAD v4: 10-43129827-A-C
• MyVariant Identifiers: chr10:g.43625275A>C (hg19) ; chr10:g.43129827A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43129827A>C , CM000672.2:g.43129827A>C	GRCh38
NC_000010.10:g.43625275A>C , CM000672.1:g.43625275A>C	GRCh37
NC_000010.9:g.42945281A>C	NCBI36
NG_007489.1:g.57759A>C , LRG_518:g.57759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.*3073A>C	ENSP00000480088.2:n.*3073A>C
ENST00000683007.1:n.5866A>C
ENST00000355710.8:c.*1558A>C MANE Select	ENSP00000347942.3:n.*1558A>C
ENST00000355710.7:c.*1558A>C	ENSP00000347942.3:n.*1558A>C
ENST00000615310.4:c.*2252A>C	ENSP00000480088.1:n.*2252A>C
NM_020975.4:c.*1558A>C , LRG_518t1:c.*1558A>C	NP_066124.1:n.*1558A>C
XM_011540027.1:c.*326A>C	XP_011538329.1:n.*326A>C
NM_020975.5:c.*1558A>C	NP_066124.1:n.*1558A>C
NM_020975.6:c.*1558A>C MANE Select	NP_066124.1:n.*1558A>C