Canonical Allele Identifier: CA038004

Gene: RET

Linked Data

• ClinVar Variation Id: 569870
• ClinVar RCV Id: RCV001014923 ; RCV001662755 ; RCV003153803 ; RCV000690605
• dbSNP Id: rs142641173
• ExAC: 10:43596057 C / T
• gnomAD v2: 10-43596057-C-T
• gnomAD v3: 10-43100609-C-T
• gnomAD v4: 10-43100609-C-T
• MyVariant Identifiers: chr10:g.43596057C>T (hg19) ; chr10:g.43100609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100609C>T , CM000672.2:g.43100609C>T	GRCh38
NC_000010.10:g.43596057C>T , CM000672.1:g.43596057C>T	GRCh37
NC_000010.9:g.42916063C>T	NCBI36
NG_007489.1:g.28541C>T , LRG_518:g.28541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.224C>T	ENSP00000480088.2:p.Thr75Met
ENST00000683278.1:c.126C>T
ENST00000684216.1:c.126C>T
ENST00000340058.6:c.224C>T	ENSP00000344798.4:p.Thr75Met
ENST00000355710.8:c.224C>T MANE Select	ENSP00000347942.3:p.Thr75Met
ENST00000638465.1:c.126C>T
ENST00000640619.1:c.126C>T
ENST00000671844.1:c.224C>T	ENSP00000500541.1:p.Thr75Met
ENST00000672389.1:c.74-10598C>T	ENSP00000500252.1:n.74-10598C>T
ENST00000340058.5:c.224C>T	ENSP00000344798.4:p.Thr75Met
ENST00000355710.7:c.224C>T	ENSP00000347942.3:p.Thr75Met
ENST00000498820.5:c.74-11490C>T	ENSP00000419080.1:n.74-11490C>T
ENST00000615310.4:c.224C>T	ENSP00000480088.1:p.Thr75Met
NM_020630.4:c.224C>T , LRG_518t2:c.224C>T	NP_065681.1:p.Thr75Met
NM_020975.4:c.224C>T , LRG_518t1:c.224C>T	NP_066124.1:p.Thr75Met
XM_011540027.1:c.224C>T	XP_011538329.1:p.Thr75Met
NM_020630.5:c.224C>T	NP_065681.1:p.Thr75Met
NM_020975.5:c.224C>T	NP_066124.1:p.Thr75Met
NM_020975.6:c.224C>T MANE Select	NP_066124.1:p.Thr75Met
NM_020630.6:c.224C>T	NP_065681.1:p.Thr75Met