Canonical Allele Identifier: CA359394288
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 871187
ClinVar RCV Id: RCV001090993
dbSNP Id: rs1752526699

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963968T>C , CM000667.2:g.33963968T>C GRCh38
NC_000005.9:g.33964073T>C , CM000667.1:g.33964073T>C GRCh37
NC_000005.8:g.33999830T>C NCBI36
NG_011691.2:g.25708A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.611A>G MANE Select ENSP00000296589.4:p.His204Arg
ENST00000296589.8:c.611A>G ENSP00000296589.4:p.His204Arg
ENST00000382102.7:c.611A>G ENSP00000371534.3:p.His204Arg
ENST00000505056.1:n.413A>G
ENST00000509381.1:c.563-9464A>G ENSP00000421100.1:n.563-9464A>G
ENST00000510600.1:c.86A>G ENSP00000424010.1:p.His29Arg
NM_001012509.3:c.611A>G NP_001012527.1:p.His204Arg
NM_001297417.2:c.563-9464A>G NP_001284346.2:n.563-9464A>G
NM_016180.4:c.611A>G NP_057264.3:p.His204Arg
XM_011514051.1:c.209A>G XP_011512353.1:p.His70Arg
XM_011514052.1:c.611A>G XP_011512354.1:p.His204Arg
XR_925620.1:n.1428A>G
NM_016180.5:c.611A>G MANE Select NP_057264.4:p.His204Arg
NM_001012509.4:c.611A>G NP_001012527.2:p.His204Arg
NM_001297417.3:c.563-9464A>G NP_001284346.2:n.563-9464A>G
NM_001297417.4:c.563-9464A>G NP_001284346.2:n.563-9464A>G