Canonical Allele Identifier: CA2789254

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197955787C>A , CM000665.2:g.197955787C>A GRCh38
NC_000003.11:g.197682658C>A , CM000665.1:g.197682658C>A GRCh37
NC_000003.10:g.199167055C>A NCBI36
NG_011743.1:g.10607C>A
NG_033072.1:g.9229G>T
NG_047207.1:g.588C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265239.11:c.-60+3742G>T (IQCG) MANE Select ENSP00000265239.6:n.-60+3742G>T
ENST00000448864.6:c.*14C>A (RPL35A) ENSP00000393393.1:n.*14C>A
ENST00000642387.1:n.538C>A (RPL35A)
ENST00000647248.2:c.*14C>A (RPL35A) MANE Select ENSP00000495672.1:n.*14C>A
ENST00000265239.10:c.-60+3742G>T (IQCG) ENSP00000265239.6:n.-60+3742G>T
ENST00000416896.1:c.-50+3742G>T (IQCG) ENSP00000406411.1:n.-50+3742G>T
ENST00000429437.5:c.*196C>A (RPL35A) ENSP00000398058.1:n.*196C>A
ENST00000439255.1:c.*346C>A (RPL35A) ENSP00000410683.1:n.*346C>A
ENST00000448864.5:c.*14C>A (RPL35A) ENSP00000393393.1:n.*14C>A
ENST00000464167.5:c.*14C>A (RPL35A) ENSP00000419117.1:n.*14C>A
ENST00000474640.1:n.623C>A (RPL35A)
ENST00000480302.5:n.312+3742G>T (IQCG)
NM_000996.2:c.*14C>A (RPL35A) NP_000987.2:n.*14C>A
NM_001316311.1:c.*14C>A (RPL35A) NP_001303240.1:n.*14C>A
NM_032263.3:c.-60+3742G>T (IQCG) NP_115639.1:n.-60+3742G>T
XR_924190.1:n.356+3742G>T (IQCG)
NM_000996.4:c.*14C>A (RPL35A) MANE Select NP_000987.2:n.*14C>A
NM_001323028.1:c.-50+3742G>T (IQCG) NP_001309957.1:n.-50+3742G>T
NM_001323029.1:c.-375+3742G>T (IQCG) NP_001309958.1:n.-375+3742G>T
NM_032263.4:c.-60+3742G>T (IQCG) NP_115639.1:n.-60+3742G>T
XM_024453790.1:c.-60+3742G>T (IQCG) XP_024309558.1:n.-60+3742G>T
XR_002959600.1:n.356+3742G>T (IQCG)
NM_032263.5:c.-60+3742G>T (IQCG) MANE Select NP_115639.1:n.-60+3742G>T
NM_001316311.2:c.*14C>A (RPL35A) NP_001303240.1:n.*14C>A
NM_001323028.2:c.-50+3742G>T (IQCG) NP_001309957.1:n.-50+3742G>T
NM_001323029.2:c.-375+3742G>T (IQCG) NP_001309958.1:n.-375+3742G>T