Canonical Allele Identifier: CA12114680
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1271558
ClinVar RCV Id: RCV001681607
dbSNP Id: rs185146

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33952001C>T , CM000667.2:g.33952001C>T GRCh38
NC_000005.9:g.33952106C>T , CM000667.1:g.33952106C>T GRCh37
NC_000005.8:g.33987863C>T NCBI36
NG_011691.2:g.37675G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.1033-324G>A MANE Select ENSP00000296589.4:p.=
ENST00000296589.8:c.1033-324G>A ENSP00000296589.4:p.=
ENST00000382102.7:c.1033-324G>A ENSP00000371534.3:p.=
ENST00000509381.1:c.707-324G>A ENSP00000421100.1:p.=
ENST00000510600.1:c.508-324G>A ENSP00000424010.1:p.=
NM_001012509.3:c.1033-324G>A NP_001012527.1:p.=
NM_001297417.2:c.707-324G>A NP_001284346.2:p.=
NM_016180.4:c.1033-324G>A NP_057264.3:p.=
XM_011514051.1:c.631-324G>A XP_011512353.1:p.=
XR_925620.1:n.1850-324G>A
NM_016180.5:c.1033-324G>A MANE Select NP_057264.4:p.=
NM_001012509.4:c.1033-324G>A NP_001012527.2:p.=
NM_001297417.3:c.707-324G>A NP_001284346.2:p.=
NM_001297417.4:c.707-324G>A NP_001284346.2:p.=