Canonical Allele Identifier: CA036915

Gene: RET

Linked Data

• ClinVar Variation Id: 486320
• ClinVar RCV Id: RCV000569915 ; RCV001068963 ; RCV001731794
• dbSNP Id: rs770100231
• ExAC: 10:43610066 A / C
• gnomAD v2: 10-43610066-A-C
• gnomAD v3: 10-43114618-A-C
• gnomAD v4: 10-43114618-A-C
• MyVariant Identifiers: chr10:g.43610066A>C (hg19) ; chr10:g.43114618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114618A>C , CM000672.2:g.43114618A>C	GRCh38
NC_000010.10:g.43610066A>C , CM000672.1:g.43610066A>C	GRCh37
NC_000010.9:g.42930072A>C	NCBI36
NG_007489.1:g.42550A>C , LRG_518:g.42550A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1622A>C	ENSP00000480088.2:p.Glu541Ala
ENST00000683007.1:n.1592A>C
ENST00000683872.1:n.1583A>C
ENST00000340058.6:c.2018A>C	ENSP00000344798.4:p.Glu673Ala
ENST00000355710.8:c.2018A>C MANE Select	ENSP00000347942.3:p.Glu673Ala
ENST00000671844.1:c.*612A>C	ENSP00000500541.1:n.*612A>C
ENST00000672389.1:c.*612A>C	ENSP00000500252.1:n.*612A>C
ENST00000340058.5:c.2018A>C	ENSP00000344798.4:p.Glu673Ala
ENST00000355710.7:c.2018A>C	ENSP00000347942.3:p.Glu673Ala
ENST00000615310.4:c.1289+3386A>C	ENSP00000480088.1:n.1289+3386A>C
NM_020630.4:c.2018A>C , LRG_518t2:c.2018A>C	NP_065681.1:p.Glu673Ala
NM_020975.4:c.2018A>C , LRG_518t1:c.2018A>C	NP_066124.1:p.Glu673Ala
XM_011540027.1:c.2018A>C	XP_011538329.1:p.Glu673Ala
NM_001355216.1:c.1256A>C	NP_001342145.1:p.Glu419Ala
NM_020630.5:c.2018A>C	NP_065681.1:p.Glu673Ala
NM_020975.5:c.2018A>C	NP_066124.1:p.Glu673Ala
NM_020975.6:c.2018A>C MANE Select	NP_066124.1:p.Glu673Ala
NM_020630.6:c.2018A>C	NP_065681.1:p.Glu673Ala