Canonical Allele Identifier: CA040017

Gene: RET

Linked Data

• ClinVar Variation Id: 372491
• ClinVar RCV Id: RCV002469143
• dbSNP Id: rs143862573
• ExAC: 10:43615198 G / A
• gnomAD v2: 10-43615198-G-A
• gnomAD v3: 10-43119750-G-A
• gnomAD v4: 10-43119750-G-A
• MyVariant Identifiers: chr10:g.43615198G>A (hg19) ; chr10:g.43119750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119750G>A , CM000672.2:g.43119750G>A	GRCh38
NC_000010.10:g.43615198G>A , CM000672.1:g.43615198G>A	GRCh37
NC_000010.9:g.42935204G>A	NCBI36
NG_007489.1:g.47682G>A , LRG_518:g.47682G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.2211+5G>A	ENSP00000480088.2:n.2211+5G>A
ENST00000683007.1:n.2181+5G>A
ENST00000683872.1:n.2172+5G>A
ENST00000340058.6:c.2607+5G>A	ENSP00000344798.4:n.2607+5G>A
ENST00000355710.8:c.2607+5G>A MANE Select	ENSP00000347942.3:n.2607+5G>A
ENST00000671844.1:c.*1201+5G>A	ENSP00000500541.1:n.*1201+5G>A
ENST00000672389.1:c.*1201+5G>A	ENSP00000500252.1:n.*1201+5G>A
ENST00000340058.5:c.2607+5G>A	ENSP00000344798.4:n.2607+5G>A
ENST00000355710.7:c.2607+5G>A	ENSP00000347942.3:n.2607+5G>A
ENST00000615310.4:c.1333+5G>A	ENSP00000480088.1:n.1333+5G>A
NM_020630.4:c.2607+5G>A , LRG_518t2:c.2607+5G>A	NP_065681.1:n.2607+5G>A
NM_020975.4:c.2607+5G>A , LRG_518t1:c.2607+5G>A	NP_066124.1:n.2607+5G>A
XM_011540027.1:c.2607+5G>A	XP_011538329.1:n.2607+5G>A
NM_001355216.1:c.1845+5G>A	NP_001342145.1:n.1845+5G>A
NM_020630.5:c.2607+5G>A	NP_065681.1:n.2607+5G>A
NM_020975.5:c.2607+5G>A	NP_066124.1:n.2607+5G>A
NM_020975.6:c.2607+5G>A MANE Select	NP_066124.1:n.2607+5G>A
NM_020630.6:c.2607+5G>A	NP_065681.1:n.2607+5G>A