Canonical Allele Identifier: CA359390017
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951647G>A , CM000667.2:g.33951647G>A GRCh38
NC_000005.9:g.33951752G>A , CM000667.1:g.33951752G>A GRCh37
NC_000005.8:g.33987509G>A NCBI36
NG_011691.2:g.38029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1063C>T MANE Select ENSP00000296589.4:p.His355Tyr
ENST00000296589.8:c.1063C>T ENSP00000296589.4:p.His355Tyr
ENST00000382102.7:c.1063C>T ENSP00000371534.3:p.His355Tyr
ENST00000509381.1:c.*5C>T ENSP00000421100.1:n.*5C>T
ENST00000510600.1:c.538C>T ENSP00000424010.1:p.His180Tyr
NM_001012509.3:c.1063C>T NP_001012527.1:p.His355Tyr
NM_001297417.2:c.*5C>T NP_001284346.2:n.*5C>T
NM_016180.4:c.1063C>T NP_057264.3:p.His355Tyr
XM_011514051.1:c.661C>T XP_011512353.1:p.His221Tyr
XR_925620.1:n.1880C>T
NM_016180.5:c.1063C>T MANE Select NP_057264.4:p.His355Tyr
NM_001012509.4:c.1063C>T NP_001012527.2:p.His355Tyr
NM_001297417.3:c.*5C>T NP_001284346.2:n.*5C>T
NM_001297417.4:c.*5C>T NP_001284346.2:n.*5C>T