Canonical Allele Identifier: CA274682

Gene: RD3

Linked Data

• ClinVar Variation Id: 189791
• ClinVar RCV Id: RCV000170305 ; RCV001726018
• dbSNP Id: rs762631020
• MyVariant Identifiers: chr1:g.211654578G>T (hg19) ; chr1:g.211481236G>T (hg38)
• PubMed: PMID:22531706

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211481236G>T , CM000663.2:g.211481236G>T	GRCh38
NC_000001.10:g.211654578G>T , CM000663.1:g.211654578G>T	GRCh37
NC_000001.9:g.209721201G>T	NCBI36
NG_013042.1:g.16682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367002.5:c.180C>A	ENSP00000355969.4:p.Tyr60Ter
ENST00000680073.1:c.180C>A MANE Select	ENSP00000505312.1:p.Tyr60Ter
ENST00000367002.4:c.180C>A	ENSP00000355969.4:p.Tyr60Ter
ENST00000484910.1:n.265-1909C>A
NM_001164688.1:c.180C>A	NP_001158160.1:p.Tyr60Ter
NM_183059.2:c.180C>A	NP_898882.1:p.Tyr60Ter
XM_011509479.1:c.180C>A	XP_011507781.1:p.Tyr60Ter
XM_017001151.1:c.216C>A	XP_016856640.1:p.Tyr72Ter
NM_183059.3:c.180C>A	NP_898882.1:p.Tyr60Ter
NM_001164688.2:c.180C>A MANE Select	NP_001158160.1:p.Tyr60Ter