Canonical Allele Identifier: CA180366

Gene: RD3

Linked Data

• ClinVar Variation Id: 167572
• ClinVar RCV Id: RCV000153816 ; RCV000877817 ; RCV003416004
• dbSNP Id: rs34049451
• ExAC: 1:211654619 G / A
• gnomAD v2: 1-211654619-G-A
• gnomAD v3: 1-211481277-G-A
• gnomAD v4: 1-211481277-G-A
• MyVariant Identifiers: chr1:g.211654619G>A (hg19) ; chr1:g.211481277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211481277G>A , CM000663.2:g.211481277G>A	GRCh38
NC_000001.10:g.211654619G>A , CM000663.1:g.211654619G>A	GRCh37
NC_000001.9:g.209721242G>A	NCBI36
NG_013042.1:g.16641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367002.5:c.139C>T	ENSP00000355969.4:p.Arg47Cys
ENST00000680073.1:c.139C>T MANE Select	ENSP00000505312.1:p.Arg47Cys
ENST00000367002.4:c.139C>T	ENSP00000355969.4:p.Arg47Cys
ENST00000484910.1:n.265-1950C>T
NM_001164688.1:c.139C>T	NP_001158160.1:p.Arg47Cys
NM_183059.2:c.139C>T	NP_898882.1:p.Arg47Cys
XM_011509479.1:c.139C>T	XP_011507781.1:p.Arg47Cys
XM_017001151.1:c.175C>T	XP_016856640.1:p.Arg59Cys
NM_183059.3:c.139C>T	NP_898882.1:p.Arg47Cys
NM_001164688.2:c.139C>T MANE Select	NP_001158160.1:p.Arg47Cys