Canonical Allele Identifier: CA1025929
Gene: CD58 HGNC NCBI
MIR548AC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.116560027C>T
GRCh37 chr1:g.117102649C>T
gnomAD v2:
1:117102649 C / T
gnomAD v3:
1:116560027 C / T
gnomAD v4:
chr1-116560027-C-T
Joint Max Group AF 0.57575786 (EAS)
Genomes Max Group AF 0.57575786 (EAS)
Exomes Max Group AF 0.32415532 (AFR)
dbSNP:
1414273
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116560027C>T , CM000663.2:g.116560027C>T GRCh38
NC_000001.10:g.117102649C>T , CM000663.1:g.117102649C>T GRCh37
NC_000001.9:g.116904172C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369489.10:c.70+10876G>A (CD58) MANE Select ENSP00000358501.5:n.70+10876G>A
ENST00000369487.3:c.70+10876G>A (CD58) ENSP00000358499.3:n.70+10876G>A
ENST00000369489.9:c.70+10876G>A (CD58) ENSP00000358501.5:n.70+10876G>A
ENST00000457047.6:c.70+10876G>A (CD58) ENSP00000409080.2:n.70+10876G>A
ENST00000464088.5:c.70+10876G>A (CD58) ENSP00000432773.1:n.70+10876G>A
NM_001144822.1:c.70+10876G>A (CD58) NP_001138294.1:n.70+10876G>A
NM_001779.2:c.70+10876G>A (CD58) NP_001770.1:n.70+10876G>A
NR_026665.1:n.191+10876G>A (CD58)
NR_039621.1:n.85G>A (MIR548AC)
XM_017002869.2:c.70+10876G>A (CD58) XP_016858358.1:n.70+10876G>A
NM_001779.3:c.70+10876G>A (CD58) MANE Select NP_001770.1:n.70+10876G>A
NR_026665.2:n.124+10876G>A (CD58)
NM_001144822.2:c.70+10876G>A (CD58) NP_001138294.1:n.70+10876G>A
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