Canonical Allele Identifier: CA341250
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197954142C>T , CM000665.2:g.197954142C>T GRCh38
NC_000003.11:g.197681013C>T , CM000665.1:g.197681013C>T GRCh37
NC_000003.10:g.199165410C>T NCBI36
NG_011743.1:g.8962C>T
NG_033072.1:g.10874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265239.11:c.-60+5387G>A (IQCG) MANE Select ENSP00000265239.6:n.-60+5387G>A
ENST00000448864.6:c.304C>T (RPL35A) ENSP00000393393.1:p.Arg102Ter
ENST00000642387.1:n.495C>T (RPL35A)
ENST00000647248.2:c.304C>T (RPL35A) MANE Select ENSP00000495672.1:p.Arg102Ter
ENST00000265239.10:c.-60+5387G>A (IQCG) ENSP00000265239.6:n.-60+5387G>A
ENST00000329092.12:n.451C>T (RPL35A)
ENST00000416896.1:c.-50+5387G>A (IQCG) ENSP00000406411.1:n.-50+5387G>A
ENST00000429437.5:c.*153C>T (RPL35A) ENSP00000398058.1:n.*153C>T
ENST00000439255.1:c.*303C>T (RPL35A) ENSP00000410683.1:n.*303C>T
ENST00000448864.5:c.304C>T (RPL35A) ENSP00000393393.1:p.Arg102Ter
ENST00000464167.5:c.304C>T (RPL35A) ENSP00000419117.1:p.Arg102Ter
ENST00000474640.1:n.580C>T (RPL35A)
ENST00000480302.5:n.312+5387G>A (IQCG)
ENST00000485439.5:n.368C>T (RPL35A)
NM_000996.2:c.304C>T (RPL35A) NP_000987.2:p.Arg102Ter
NM_001316311.1:c.304C>T (RPL35A) NP_001303240.1:p.Arg102Ter
NM_032263.3:c.-60+5387G>A (IQCG) NP_115639.1:n.-60+5387G>A
XR_924190.1:n.356+5387G>A (IQCG)
NM_000996.4:c.304C>T (RPL35A) MANE Select NP_000987.2:p.Arg102Ter
NM_001323028.1:c.-50+5387G>A (IQCG) NP_001309957.1:n.-50+5387G>A
NM_001323029.1:c.-375+5387G>A (IQCG) NP_001309958.1:n.-375+5387G>A
NM_032263.4:c.-60+5387G>A (IQCG) NP_115639.1:n.-60+5387G>A
XM_024453790.1:c.-60+5387G>A (IQCG) XP_024309558.1:n.-60+5387G>A
XR_002959600.1:n.356+5387G>A (IQCG)
NM_032263.5:c.-60+5387G>A (IQCG) MANE Select NP_115639.1:n.-60+5387G>A
NM_001316311.2:c.304C>T (RPL35A) NP_001303240.1:p.Arg102Ter
NM_001323028.2:c.-50+5387G>A (IQCG) NP_001309957.1:n.-50+5387G>A
NM_001323029.2:c.-375+5387G>A (IQCG) NP_001309958.1:n.-375+5387G>A