Canonical Allele Identifier: CA349464

Gene: RET

Linked Data

• ClinVar Variation Id: 219685
• ClinVar RCV Id: RCV000205297 ; RCV000251081 ; RCV000574221 ; RCV003316129
• dbSNP Id: rs375812189
• gnomAD v4: 10-43106459-G-A
• COSMIC: COSM1347802 ; COSM1957176
• MyVariant Identifiers: chr10:g.43601907G>A (hg19) ; chr10:g.43106459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43106459G>A , CM000672.2:g.43106459G>A	GRCh38
NC_000010.10:g.43601907G>A , CM000672.1:g.43601907G>A	GRCh37
NC_000010.9:g.42921913G>A	NCBI36
NG_007489.1:g.34391G>A , LRG_518:g.34391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.867+1266G>A	ENSP00000480088.2:n.867+1266G>A
ENST00000683007.1:n.525G>A
ENST00000340058.6:c.951G>A	ENSP00000344798.4:p.Thr317=
ENST00000355710.8:c.951G>A MANE Select	ENSP00000347942.3:p.Thr317=
ENST00000671844.1:c.625+3830G>A	ENSP00000500541.1:n.625+3830G>A
ENST00000672389.1:c.74-4748G>A	ENSP00000500252.1:n.74-4748G>A
ENST00000340058.5:c.951G>A	ENSP00000344798.4:p.Thr317=
ENST00000355710.7:c.951G>A	ENSP00000347942.3:p.Thr317=
ENST00000479913.1:n.546G>A
ENST00000498820.5:c.74-5640G>A	ENSP00000419080.1:n.74-5640G>A
ENST00000615310.4:c.951G>A	ENSP00000480088.1:p.Thr317=
NM_020630.4:c.951G>A , LRG_518t2:c.951G>A	NP_065681.1:p.Thr317=
NM_020975.4:c.951G>A , LRG_518t1:c.951G>A	NP_066124.1:p.Thr317=
XM_011540027.1:c.951G>A	XP_011538329.1:p.Thr317=
NM_001355216.1:c.189G>A	NP_001342145.1:p.Thr63=
NM_020630.5:c.951G>A	NP_065681.1:p.Thr317=
NM_020975.5:c.951G>A	NP_066124.1:p.Thr317=
NM_020975.6:c.951G>A MANE Select	NP_066124.1:p.Thr317=
NM_020630.6:c.951G>A	NP_065681.1:p.Thr317=