Canonical Allele Identifier: CA1538196311
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963984C= , CM000667.2:g.33963984C= GRCh38
NC_000005.9:g.33964089C= , CM000667.1:g.33964089C= GRCh37
NC_000005.8:g.33999846C= NCBI36
NG_011691.2:g.25692G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.595G= MANE Select ENSP00000296589.4:p.Ala199=
ENST00000296589.8:c.595G= ENSP00000296589.4:p.Ala199=
ENST00000382102.7:c.595G= ENSP00000371534.3:p.Ala199=
ENST00000505056.1:n.397G=
ENST00000509381.1:c.563-9480G= ENSP00000421100.1:n.563-9480G=
ENST00000510600.1:c.70G= ENSP00000424010.1:p.Ala24=
NM_001012509.3:c.595G= NP_001012527.1:p.Ala199=
NM_001297417.2:c.563-9480G= NP_001284346.2:n.563-9480G=
NM_016180.4:c.595G= NP_057264.3:p.Ala199=
XM_011514051.1:c.193G= XP_011512353.1:p.Ala65=
XM_011514052.1:c.595G= XP_011512354.1:p.Ala199=
XR_925620.1:n.1412G=
NM_016180.5:c.595G= MANE Select NP_057264.4:p.Ala199=
NM_001012509.4:c.595G= NP_001012527.2:p.Ala199=
NM_001297417.3:c.563-9480G= NP_001284346.2:n.563-9480G=
NM_001297417.4:c.563-9480G= NP_001284346.2:n.563-9480G=