Canonical Allele Identifier: CA469028192

Gene: RET

Linked Data

• ClinVar Variation Id: 543789
• ClinVar RCV Id: RCV000654637 ; RCV002458162
• dbSNP Id: rs1554819406
• gnomAD v4: 10-43118461-T-C
• MyVariant Identifiers: chr10:g.43613909T>C (hg19) ; chr10:g.43118461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43118461T>C , CM000672.2:g.43118461T>C	GRCh38
NC_000010.10:g.43613909T>C , CM000672.1:g.43613909T>C	GRCh37
NC_000010.9:g.42933915T>C	NCBI36
NG_007489.1:g.46393T>C , LRG_518:g.46393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1977T>C	ENSP00000480088.2:p.Tyr659=
ENST00000683007.1:n.1947T>C
ENST00000683872.1:n.1938T>C
ENST00000340058.6:c.2373T>C	ENSP00000344798.4:p.Tyr791=
ENST00000355710.8:c.2373T>C MANE Select	ENSP00000347942.3:p.Tyr791=
ENST00000671844.1:c.*967T>C	ENSP00000500541.1:n.*967T>C
ENST00000672389.1:c.*967T>C	ENSP00000500252.1:n.*967T>C
ENST00000340058.5:c.2373T>C	ENSP00000344798.4:p.Tyr791=
ENST00000355710.7:c.2373T>C	ENSP00000347942.3:p.Tyr791=
ENST00000615310.4:c.1290-1241T>C	ENSP00000480088.1:n.1290-1241T>C
NM_020630.4:c.2373T>C , LRG_518t2:c.2373T>C	NP_065681.1:p.Tyr791=
NM_020975.4:c.2373T>C , LRG_518t1:c.2373T>C	NP_066124.1:p.Tyr791=
XM_011540027.1:c.2373T>C	XP_011538329.1:p.Tyr791=
NM_001355216.1:c.1611T>C	NP_001342145.1:p.Tyr537=
NM_020630.5:c.2373T>C	NP_065681.1:p.Tyr791=
NM_020975.5:c.2373T>C	NP_066124.1:p.Tyr791=
NM_020975.6:c.2373T>C MANE Select	NP_066124.1:p.Tyr791=
NM_020630.6:c.2373T>C	NP_065681.1:p.Tyr791=