Canonical Allele Identifier: CA009228

Gene: RET

Linked Data

• ClinVar Variation Id: 95996
• ClinVar RCV Id: RCV000082056 ; RCV000282670 ; RCV000294618 ; RCV000334351 ; RCV000372689 ; RCV000860141 ; RCV001610381 ; RCV002453407 ; RCV002466424 ; RCV003315607
• dbSNP Id: rs2435351
• ExAC: 10:43596179 G / A
• gnomAD v2: 10-43596179-G-A
• gnomAD v3: 10-43100731-G-A
• gnomAD v4: 10-43100731-G-A
• MyVariant Identifiers: chr10:g.43596179G>A (hg19) ; chr10:g.43100731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100731G>A , CM000672.2:g.43100731G>A	GRCh38
NC_000010.10:g.43596179G>A , CM000672.1:g.43596179G>A	GRCh37
NC_000010.9:g.42916185G>A	NCBI36
NG_007489.1:g.28663G>A , LRG_518:g.28663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.337+9G>A	ENSP00000480088.2:n.337+9G>A
ENST00000683278.1:c.239+9G>A
ENST00000684216.1:c.239+9G>A
ENST00000340058.6:c.337+9G>A	ENSP00000344798.4:n.337+9G>A
ENST00000355710.8:c.337+9G>A MANE Select	ENSP00000347942.3:n.337+9G>A
ENST00000638465.1:c.239+9G>A
ENST00000640619.1:c.239+9G>A
ENST00000671844.1:c.337+9G>A	ENSP00000500541.1:n.337+9G>A
ENST00000672389.1:c.74-10476G>A	ENSP00000500252.1:n.74-10476G>A
ENST00000340058.5:c.337+9G>A	ENSP00000344798.4:n.337+9G>A
ENST00000355710.7:c.337+9G>A	ENSP00000347942.3:n.337+9G>A
ENST00000498820.5:c.74-11368G>A	ENSP00000419080.1:n.74-11368G>A
ENST00000615310.4:c.337+9G>A	ENSP00000480088.1:n.337+9G>A
NM_020630.4:c.337+9G>A , LRG_518t2:c.337+9G>A	NP_065681.1:n.337+9G>A
NM_020975.4:c.337+9G>A , LRG_518t1:c.337+9G>A	NP_066124.1:n.337+9G>A
XM_011540027.1:c.337+9G>A	XP_011538329.1:n.337+9G>A
NM_020630.5:c.337+9G>A	NP_065681.1:n.337+9G>A
NM_020975.5:c.337+9G>A	NP_066124.1:n.337+9G>A
NM_020975.6:c.337+9G>A MANE Select	NP_066124.1:n.337+9G>A
NM_020630.6:c.337+9G>A	NP_065681.1:n.337+9G>A