Canonical Allele Identifier: CA044503

Gene: RET

Linked Data

• ClinVar Variation Id: 220524
• ClinVar RCV Id: RCV000206221 ; RCV000571565 ; RCV004541291 ; RCV002494530 ; RCV003148679
• dbSNP Id: rs760813493
• ExAC: 10:43600456 G / C
• gnomAD v2: 10-43600456-G-C
• gnomAD v3: 10-43105008-G-C
• gnomAD v4: 10-43105008-G-C
• MyVariant Identifiers: chr10:g.43600456G>C (hg19) ; chr10:g.43105008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43105008G>C , CM000672.2:g.43105008G>C	GRCh38
NC_000010.10:g.43600456G>C , CM000672.1:g.43600456G>C	GRCh37
NC_000010.9:g.42920462G>C	NCBI36
NG_007489.1:g.32940G>C , LRG_518:g.32940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.682G>C	ENSP00000480088.2:p.Ala228Pro
ENST00000683007.1:n.256G>C
ENST00000340058.6:c.682G>C	ENSP00000344798.4:p.Ala228Pro
ENST00000355710.8:c.682G>C MANE Select	ENSP00000347942.3:p.Ala228Pro
ENST00000671844.1:c.625+2379G>C	ENSP00000500541.1:n.625+2379G>C
ENST00000672389.1:c.74-6199G>C	ENSP00000500252.1:n.74-6199G>C
ENST00000340058.5:c.682G>C	ENSP00000344798.4:p.Ala228Pro
ENST00000355710.7:c.682G>C	ENSP00000347942.3:p.Ala228Pro
ENST00000479913.1:n.277G>C
ENST00000498820.5:c.74-7091G>C	ENSP00000419080.1:n.74-7091G>C
ENST00000615310.4:c.682G>C	ENSP00000480088.1:p.Ala228Pro
NM_020630.4:c.682G>C , LRG_518t2:c.682G>C	NP_065681.1:p.Ala228Pro
NM_020975.4:c.682G>C , LRG_518t1:c.682G>C	NP_066124.1:p.Ala228Pro
XM_011540027.1:c.682G>C	XP_011538329.1:p.Ala228Pro
NM_001355216.1:c.-81G>C	NP_001342145.1:n.-81G>C
NM_020630.5:c.682G>C	NP_065681.1:p.Ala228Pro
NM_020975.5:c.682G>C	NP_066124.1:p.Ala228Pro
NM_020975.6:c.682G>C MANE Select	NP_066124.1:p.Ala228Pro
NM_020630.6:c.682G>C	NP_065681.1:p.Ala228Pro