Canonical Allele Identifier: CA009244

Gene: RET

Linked Data

• ClinVar Variation Id: 95997
• ClinVar RCV Id: RCV003315608
• dbSNP Id: rs1800859
• ExAC: 10:43597827 C / A
• gnomAD v2: 10-43597827-C-A
• gnomAD v3: 10-43102379-C-A
• gnomAD v4: 10-43102379-C-A
• MyVariant Identifiers: chr10:g.43597827C>A (hg19) ; chr10:g.43102379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43102379C>A , CM000672.2:g.43102379C>A	GRCh38
NC_000010.10:g.43597827C>A , CM000672.1:g.43597827C>A	GRCh37
NC_000010.9:g.42917833C>A	NCBI36
NG_007489.1:g.30311C>A , LRG_518:g.30311C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.375C>A	ENSP00000480088.2:p.Val125=
ENST00000683278.1:c.296C>A
ENST00000684216.1:c.277C>A
ENST00000340058.6:c.375C>A	ENSP00000344798.4:p.Val125=
ENST00000355710.8:c.375C>A MANE Select	ENSP00000347942.3:p.Val125=
ENST00000638465.1:c.317C>A
ENST00000640619.1:c.240-92C>A
ENST00000671844.1:c.375C>A	ENSP00000500541.1:p.Val125=
ENST00000672389.1:c.74-8828C>A	ENSP00000500252.1:n.74-8828C>A
ENST00000340058.5:c.375C>A	ENSP00000344798.4:p.Val125=
ENST00000355710.7:c.375C>A	ENSP00000347942.3:p.Val125=
ENST00000498820.5:c.74-9720C>A	ENSP00000419080.1:n.74-9720C>A
ENST00000615310.4:c.375C>A	ENSP00000480088.1:p.Val125=
NM_020630.4:c.375C>A , LRG_518t2:c.375C>A	NP_065681.1:p.Val125=
NM_020975.4:c.375C>A , LRG_518t1:c.375C>A	NP_066124.1:p.Val125=
XM_011540027.1:c.375C>A	XP_011538329.1:p.Val125=
NM_020630.5:c.375C>A	NP_065681.1:p.Val125=
NM_020975.5:c.375C>A	NP_066124.1:p.Val125=
NM_020975.6:c.375C>A MANE Select	NP_066124.1:p.Val125=
NM_020630.6:c.375C>A	NP_065681.1:p.Val125=