Canonical Allele Identifier: CA253175
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4500
ClinVar RCV Id: RCV000004758 RCV000724498
dbSNP Id: rs387906317
MyVariant Identifiers: chr5:g.33954512del (hg19) chr5:g.33954407del (hg38)
PubMed: PMID:14722913
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33954407del , CM000667.2:g.33954407del GRCh38
NC_000005.9:g.33954512del , CM000667.1:g.33954512del GRCh37
NC_000005.8:g.33990269del NCBI36
NG_011691.2:g.35269del

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.986del MANE Select ENSP00000296589.4:p.Thr329LysfsTer?
ENST00000296589.8:c.986del ENSP00000296589.4:p.Thr329LysfsTer?
ENST00000382102.7:c.986del ENSP00000371534.3:p.Thr329LysfsTer?
ENST00000509381.1:c.660del ENSP00000421100.1:p.Asp220GlufsTer?
ENST00000510600.1:c.461del ENSP00000424010.1:p.Thr154LysfsTer?
NM_001012509.3:c.986del NP_001012527.1:p.Thr329LysfsTer?
NM_001297417.2:c.660del NP_001284346.2:p.Asp220GlufsTer?
NM_016180.4:c.986del NP_057264.3:p.Thr329LysfsTer?
XM_011514051.1:c.584del XP_011512353.1:p.Thr195LysfsTer?
XR_925620.1:n.1803del
NM_016180.5:c.986del MANE Select NP_057264.4:p.Thr329LysfsTer?
NM_001012509.4:c.986del NP_001012527.2:p.Thr329LysfsTer?
NM_001297417.3:c.660del NP_001284346.2:p.Asp220GlufsTer?
NM_001297417.4:c.660del NP_001284346.2:p.Asp220GlufsTer?
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