Canonical Allele Identifier: CA341247

Linked Data

ClinVar Variation Id: 13001
ClinVar RCV Id: RCV000013875
dbSNP Id: rs116840808

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197951244G>A , CM000665.2:g.197951244G>A GRCh38
NC_000003.11:g.197678115G>A , CM000665.1:g.197678115G>A GRCh37
NC_000003.10:g.199162512G>A NCBI36
NG_011743.1:g.6064G>A
NG_033072.1:g.13772C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265239.11:c.-59-5558C>T (IQCG) MANE Select ENSP00000265239.6:n.-59-5558C>T
ENST00000448864.6:c.97G>A (RPL35A) ENSP00000393393.1:p.Val33Ile
ENST00000642387.1:n.288G>A (RPL35A)
ENST00000647248.2:c.97G>A (RPL35A) MANE Select ENSP00000495672.1:p.Val33Ile
ENST00000265239.10:c.-59-5558C>T (IQCG) ENSP00000265239.6:n.-59-5558C>T
ENST00000329092.12:n.158G>A (RPL35A)
ENST00000416896.1:c.-49-7193C>T (IQCG) ENSP00000406411.1:n.-49-7193C>T
ENST00000429437.5:c.97G>A (RPL35A) ENSP00000398058.1:p.Val33Ile
ENST00000439255.1:c.97G>A (RPL35A) ENSP00000410683.1:p.Val33Ile
ENST00000442341.5:c.97G>A (RPL35A) ENSP00000387688.1:p.Val33Ile
ENST00000448864.5:c.97G>A (RPL35A) ENSP00000393393.1:p.Val33Ile
ENST00000464167.5:c.97G>A (RPL35A) ENSP00000419117.1:p.Val33Ile
ENST00000480302.5:n.313-5558C>T (IQCG)
ENST00000485439.5:n.161G>A (RPL35A)
ENST00000496582.5:n.158G>A (RPL35A)
NM_000996.2:c.97G>A (RPL35A) NP_000987.2:p.Val33Ile
NM_001316311.1:c.97G>A (RPL35A) NP_001303240.1:p.Val33Ile
NM_032263.3:c.-59-5558C>T (IQCG) NP_115639.1:n.-59-5558C>T
XR_924190.1:n.357-5558C>T (IQCG)
NM_000996.4:c.97G>A (RPL35A) MANE Select NP_000987.2:p.Val33Ile
NM_001323028.1:c.-49-7193C>T (IQCG) NP_001309957.1:n.-49-7193C>T
NM_001323029.1:c.-374-5558C>T (IQCG) NP_001309958.1:n.-374-5558C>T
NM_032263.4:c.-59-5558C>T (IQCG) NP_115639.1:n.-59-5558C>T
XM_024453790.1:c.-59-5558C>T (IQCG) XP_024309558.1:n.-59-5558C>T
XR_002959600.1:n.357-5558C>T (IQCG)
NM_032263.5:c.-59-5558C>T (IQCG) MANE Select NP_115639.1:n.-59-5558C>T
NM_001316311.2:c.97G>A (RPL35A) NP_001303240.1:p.Val33Ile
NM_001323028.2:c.-49-7193C>T (IQCG) NP_001309957.1:n.-49-7193C>T
NM_001323029.2:c.-374-5558C>T (IQCG) NP_001309958.1:n.-374-5558C>T