Canonical Allele Identifier: CA008286

Gene: RET

Linked Data

• dbSNP Id: rs387906531
• gnomAD v2: 10-43609944-G-C
• MyVariant Identifiers: chr10:g.43609944G>C (hg19) ; chr10:g.43114496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114496G>C , CM000672.2:g.43114496G>C	GRCh38
NC_000010.10:g.43609944G>C , CM000672.1:g.43609944G>C	GRCh37
NC_000010.9:g.42929950G>C	NCBI36
NG_007489.1:g.42428G>C , LRG_518:g.42428G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1500G>C	ENSP00000480088.2:p.Glu500Asp
ENST00000683007.1:n.1470G>C
ENST00000683872.1:n.1461G>C
ENST00000340058.6:c.1896G>C	ENSP00000344798.4:p.Glu632Asp
ENST00000355710.8:c.1896G>C MANE Select	ENSP00000347942.3:p.Glu632Asp
ENST00000671844.1:c.*490G>C	ENSP00000500541.1:n.*490G>C
ENST00000672389.1:c.*490G>C	ENSP00000500252.1:n.*490G>C
ENST00000340058.5:c.1896G>C	ENSP00000344798.4:p.Glu632Asp
ENST00000355710.7:c.1896G>C	ENSP00000347942.3:p.Glu632Asp
ENST00000498820.5:c.447G>C	ENSP00000419080.1:p.Glu149Asp
ENST00000615310.4:c.1289+3264G>C	ENSP00000480088.1:n.1289+3264G>C
NM_020630.4:c.1896G>C , LRG_518t2:c.1896G>C	NP_065681.1:p.Glu632Asp
NM_020975.4:c.1896G>C , LRG_518t1:c.1896G>C	NP_066124.1:p.Glu632Asp
XM_011540027.1:c.1896G>C	XP_011538329.1:p.Glu632Asp
NM_001355216.1:c.1134G>C	NP_001342145.1:p.Glu378Asp
NM_020630.5:c.1896G>C	NP_065681.1:p.Glu632Asp
NM_020975.5:c.1896G>C	NP_066124.1:p.Glu632Asp
NM_020975.6:c.1896G>C MANE Select	NP_066124.1:p.Glu632Asp
NM_020630.6:c.1896G>C	NP_065681.1:p.Glu632Asp