Canonical Allele Identifier: CA038673

Gene: RET

Linked Data

• ClinVar Variation Id: 405541
• ClinVar RCV Id: RCV000463969 ; RCV001015286 ; RCV001104288 ; RCV001105645 ; RCV001105646 ; RCV001105647
• dbSNP Id: rs537523906
• ExAC: 10:43596068 C / T
• gnomAD v2: 10-43596068-C-T
• gnomAD v3: 10-43100620-C-T
• gnomAD v4: 10-43100620-C-T
• MyVariant Identifiers: chr10:g.43596068C>T (hg19) ; chr10:g.43100620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100620C>T , CM000672.2:g.43100620C>T	GRCh38
NC_000010.10:g.43596068C>T , CM000672.1:g.43596068C>T	GRCh37
NC_000010.9:g.42916074C>T	NCBI36
NG_007489.1:g.28552C>T , LRG_518:g.28552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.235C>T	ENSP00000480088.2:p.Arg79Trp
ENST00000683278.1:c.137C>T
ENST00000684216.1:c.137C>T
ENST00000340058.6:c.235C>T	ENSP00000344798.4:p.Arg79Trp
ENST00000355710.8:c.235C>T MANE Select	ENSP00000347942.3:p.Arg79Trp
ENST00000638465.1:c.137C>T
ENST00000640619.1:c.137C>T
ENST00000671844.1:c.235C>T	ENSP00000500541.1:p.Arg79Trp
ENST00000672389.1:c.74-10587C>T	ENSP00000500252.1:n.74-10587C>T
ENST00000340058.5:c.235C>T	ENSP00000344798.4:p.Arg79Trp
ENST00000355710.7:c.235C>T	ENSP00000347942.3:p.Arg79Trp
ENST00000498820.5:c.74-11479C>T	ENSP00000419080.1:n.74-11479C>T
ENST00000615310.4:c.235C>T	ENSP00000480088.1:p.Arg79Trp
NM_020630.4:c.235C>T , LRG_518t2:c.235C>T	NP_065681.1:p.Arg79Trp
NM_020975.4:c.235C>T , LRG_518t1:c.235C>T	NP_066124.1:p.Arg79Trp
XM_011540027.1:c.235C>T	XP_011538329.1:p.Arg79Trp
NM_020630.5:c.235C>T	NP_065681.1:p.Arg79Trp
NM_020975.5:c.235C>T	NP_066124.1:p.Arg79Trp
NM_020975.6:c.235C>T MANE Select	NP_066124.1:p.Arg79Trp
NM_020630.6:c.235C>T	NP_065681.1:p.Arg79Trp