Canonical Allele Identifier: CA343296618
Community Standard Title: NM_001778.4(CD48):c.344C>G (p.Thr115Ser)
Gene: CD48 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160684928G>C , CM000663.2:g.160684928G>C GRCh38
NC_000001.10:g.160654718G>C , CM000663.1:g.160654718G>C GRCh37
NC_000001.9:g.158921342G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001778.4:c.344C>G MANE Select NP_001769.2:p.Thr115Ser
ENST00000368046.8:c.344C>G MANE Select ENSP00000357025.3:p.Thr115Ser
NM_001256030.1:c.344C>G NP_001242959.1:p.Thr115Ser
NM_001256030.2:c.344C>G NP_001242959.1:p.Thr115Ser
NM_001778.3:c.344C>G NP_001769.2:p.Thr115Ser
ENST00000368045.3:c.344C>G ENSP00000357024.3:p.Thr115Ser
ENST00000368046.7:c.344C>G ENSP00000357025.3:p.Thr115Ser
ENST00000613788.1:c.344C>G ENSP00000484431.1:p.Thr115Ser
XM_005245625.1:c.344C>G XP_005245682.1:p.Thr115Ser
XM_011510171.1:c.248C>G XP_011508473.1:p.Thr83Ser
XM_011510171.2:c.248C>G XP_011508473.1:p.Thr83Ser
XM_017002867.2:c.83-3460C>G XP_016858356.1:n.83-3460C>G