Canonical Allele Identifier: CA043742

Gene: RET

Linked Data

• ClinVar Variation Id: 486321
• ClinVar RCV Id: RCV000575489 ; RCV000709102 ; RCV000812605 ; RCV003459399 ; RCV001764690 ; RCV002483540
• dbSNP Id: rs150261092
• ExAC: 10:43597904 A / G
• gnomAD v2: 10-43597904-A-G
• gnomAD v3: 10-43102456-A-G
• gnomAD v4: 10-43102456-A-G
• MyVariant Identifiers: chr10:g.43597904A>G (hg19) ; chr10:g.43102456A>G (hg38)
• PubMed: PMID:24336963

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43102456A>G , CM000672.2:g.43102456A>G	GRCh38
NC_000010.10:g.43597904A>G , CM000672.1:g.43597904A>G	GRCh37
NC_000010.9:g.42917910A>G	NCBI36
NG_007489.1:g.30388A>G , LRG_518:g.30388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.452A>G	ENSP00000480088.2:p.Asn151Ser
ENST00000683278.1:c.373A>G
ENST00000684216.1:c.354A>G
ENST00000340058.6:c.452A>G	ENSP00000344798.4:p.Asn151Ser
ENST00000355710.8:c.452A>G MANE Select	ENSP00000347942.3:p.Asn151Ser
ENST00000638465.1:c.394A>G
ENST00000640619.1:c.240-15A>G
ENST00000671844.1:c.452A>G	ENSP00000500541.1:p.Asn151Ser
ENST00000672389.1:c.74-8751A>G	ENSP00000500252.1:n.74-8751A>G
ENST00000340058.5:c.452A>G	ENSP00000344798.4:p.Asn151Ser
ENST00000355710.7:c.452A>G	ENSP00000347942.3:p.Asn151Ser
ENST00000498820.5:c.74-9643A>G	ENSP00000419080.1:n.74-9643A>G
ENST00000615310.4:c.452A>G	ENSP00000480088.1:p.Asn151Ser
NM_020630.4:c.452A>G , LRG_518t2:c.452A>G	NP_065681.1:p.Asn151Ser
NM_020975.4:c.452A>G , LRG_518t1:c.452A>G	NP_066124.1:p.Asn151Ser
XM_011540027.1:c.452A>G	XP_011538329.1:p.Asn151Ser
NM_020630.5:c.452A>G	NP_065681.1:p.Asn151Ser
NM_020975.5:c.452A>G	NP_066124.1:p.Asn151Ser
NM_020975.6:c.452A>G MANE Select	NP_066124.1:p.Asn151Ser
NM_020630.6:c.452A>G	NP_065681.1:p.Asn151Ser