Canonical Allele Identifier: CA359389883
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951615T>G , CM000667.2:g.33951615T>G GRCh38
NC_000005.9:g.33951720T>G , CM000667.1:g.33951720T>G GRCh37
NC_000005.8:g.33987477T>G NCBI36
NG_011691.2:g.38061A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1095A>C MANE Select ENSP00000296589.4:p.Arg365Ser
ENST00000296589.8:c.1095A>C ENSP00000296589.4:p.Arg365Ser
ENST00000382102.7:c.1095A>C ENSP00000371534.3:p.Arg365Ser
ENST00000509381.1:c.*37A>C ENSP00000421100.1:n.*37A>C
ENST00000510600.1:c.570A>C ENSP00000424010.1:p.Arg190Ser
NM_001012509.3:c.1095A>C NP_001012527.1:p.Arg365Ser
NM_001297417.2:c.*37A>C NP_001284346.2:n.*37A>C
NM_016180.4:c.1095A>C NP_057264.3:p.Arg365Ser
XM_011514051.1:c.693A>C XP_011512353.1:p.Arg231Ser
XR_925620.1:n.1912A>C
NM_016180.5:c.1095A>C MANE Select NP_057264.4:p.Arg365Ser
NM_001012509.4:c.1095A>C NP_001012527.2:p.Arg365Ser
NM_001297417.3:c.*37A>C NP_001284346.2:n.*37A>C
NM_001297417.4:c.*37A>C NP_001284346.2:n.*37A>C