Canonical Allele Identifier: CA10616001

Linked Data

ClinVar Variation Id: 344524
ClinVar RCV Id: RCV000338263
dbSNP Id: rs886058265

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197950217T>G , CM000665.2:g.197950217T>G GRCh38
NC_000003.11:g.197677088T>G , CM000665.1:g.197677088T>G GRCh37
NC_000003.10:g.199161485T>G NCBI36
NG_011743.1:g.5037T>G
NG_033072.1:g.14799A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265239.11:c.-59-4531A>C (IQCG) MANE Select ENSP00000265239.6:n.-59-4531A>C
ENST00000448864.6:c.-115T>G (RPL35A) ENSP00000393393.1:n.-115T>G
ENST00000642148.1:n.26T>G (RPL35A)
ENST00000642387.1:n.27T>G (RPL35A)
ENST00000647248.2:c.-37T>G (RPL35A) MANE Select ENSP00000495672.1:n.-37T>G
ENST00000265239.10:c.-59-4531A>C (IQCG) ENSP00000265239.6:n.-59-4531A>C
ENST00000329092.12:n.25T>G (RPL35A)
ENST00000416896.1:c.-49-6166A>C (IQCG) ENSP00000406411.1:n.-49-6166A>C
ENST00000429437.5:c.-37T>G (RPL35A) ENSP00000398058.1:n.-37T>G
ENST00000448864.5:c.-115T>G (RPL35A) ENSP00000393393.1:n.-115T>G
ENST00000464167.5:c.-37T>G (RPL35A) ENSP00000419117.1:n.-37T>G
ENST00000480302.5:n.313-4531A>C (IQCG)
ENST00000485439.5:n.28T>G (RPL35A)
ENST00000496582.5:n.25T>G (RPL35A)
NM_000996.2:c.-37T>G (RPL35A) NP_000987.2:n.-37T>G
NM_032263.3:c.-59-4531A>C (IQCG) NP_115639.1:n.-59-4531A>C
XR_924190.1:n.357-4531A>C (IQCG)
NM_000996.4:c.-37T>G (RPL35A) MANE Select NP_000987.2:n.-37T>G
NM_001323028.1:c.-49-6166A>C (IQCG) NP_001309957.1:n.-49-6166A>C
NM_001323029.1:c.-374-4531A>C (IQCG) NP_001309958.1:n.-374-4531A>C
NM_032263.4:c.-59-4531A>C (IQCG) NP_115639.1:n.-59-4531A>C
XM_024453790.1:c.-59-4531A>C (IQCG) XP_024309558.1:n.-59-4531A>C
XR_002959600.1:n.357-4531A>C (IQCG)
NM_032263.5:c.-59-4531A>C (IQCG) MANE Select NP_115639.1:n.-59-4531A>C
NM_001316311.2:c.-115T>G (RPL35A) NP_001303240.1:n.-115T>G
NM_001323028.2:c.-49-6166A>C (IQCG) NP_001309957.1:n.-49-6166A>C
NM_001323029.2:c.-374-4531A>C (IQCG) NP_001309958.1:n.-374-4531A>C