Canonical Allele Identifier: CA355902650

Linked Data

ClinVar Variation Id: 1480694
ClinVar RCV Id: RCV001986019
dbSNP Id: rs2109804811

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197951224C>T , CM000665.2:g.197951224C>T GRCh38
NC_000003.11:g.197678095C>T , CM000665.1:g.197678095C>T GRCh37
NC_000003.10:g.199162492C>T NCBI36
NG_011743.1:g.6044C>T
NG_033072.1:g.13792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265239.11:c.-59-5538G>A (IQCG) MANE Select ENSP00000265239.6:n.-59-5538G>A
ENST00000448864.6:c.77C>T (RPL35A) ENSP00000393393.1:p.Ala26Val
ENST00000642387.1:n.268C>T (RPL35A)
ENST00000647248.2:c.77C>T (RPL35A) MANE Select ENSP00000495672.1:p.Ala26Val
ENST00000265239.10:c.-59-5538G>A (IQCG) ENSP00000265239.6:n.-59-5538G>A
ENST00000329092.12:n.138C>T (RPL35A)
ENST00000416896.1:c.-49-7173G>A (IQCG) ENSP00000406411.1:n.-49-7173G>A
ENST00000429437.5:c.77C>T (RPL35A) ENSP00000398058.1:p.Ala26Val
ENST00000439255.1:c.77C>T (RPL35A) ENSP00000410683.1:p.Ala26Val
ENST00000442341.5:c.77C>T (RPL35A) ENSP00000387688.1:p.Ala26Val
ENST00000448864.5:c.77C>T (RPL35A) ENSP00000393393.1:p.Ala26Val
ENST00000464167.5:c.77C>T (RPL35A) ENSP00000419117.1:p.Ala26Val
ENST00000480302.5:n.313-5538G>A (IQCG)
ENST00000485439.5:n.141C>T (RPL35A)
ENST00000496582.5:n.138C>T (RPL35A)
NM_000996.2:c.77C>T (RPL35A) NP_000987.2:p.Ala26Val
NM_001316311.1:c.77C>T (RPL35A) NP_001303240.1:p.Ala26Val
NM_032263.3:c.-59-5538G>A (IQCG) NP_115639.1:n.-59-5538G>A
XR_924190.1:n.357-5538G>A (IQCG)
NM_000996.4:c.77C>T (RPL35A) MANE Select NP_000987.2:p.Ala26Val
NM_001323028.1:c.-49-7173G>A (IQCG) NP_001309957.1:n.-49-7173G>A
NM_001323029.1:c.-374-5538G>A (IQCG) NP_001309958.1:n.-374-5538G>A
NM_032263.4:c.-59-5538G>A (IQCG) NP_115639.1:n.-59-5538G>A
XM_024453790.1:c.-59-5538G>A (IQCG) XP_024309558.1:n.-59-5538G>A
XR_002959600.1:n.357-5538G>A (IQCG)
NM_032263.5:c.-59-5538G>A (IQCG) MANE Select NP_115639.1:n.-59-5538G>A
NM_001316311.2:c.77C>T (RPL35A) NP_001303240.1:p.Ala26Val
NM_001323028.2:c.-49-7173G>A (IQCG) NP_001309957.1:n.-49-7173G>A
NM_001323029.2:c.-374-5538G>A (IQCG) NP_001309958.1:n.-374-5538G>A