Canonical Allele Identifier: CA359393406
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963783A>G , CM000667.2:g.33963783A>G GRCh38
NC_000005.9:g.33963888A>G , CM000667.1:g.33963888A>G GRCh37
NC_000005.8:g.33999645A>G NCBI36
NG_011691.2:g.25893T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.796T>C MANE Select ENSP00000296589.4:p.Tyr266His
ENST00000296589.8:c.796T>C ENSP00000296589.4:p.Tyr266His
ENST00000382102.7:c.796T>C ENSP00000371534.3:p.Tyr266His
ENST00000505056.1:n.598T>C
ENST00000509381.1:c.563-9279T>C ENSP00000421100.1:n.563-9279T>C
ENST00000510600.1:c.271T>C ENSP00000424010.1:p.Tyr91His
NM_001012509.3:c.796T>C NP_001012527.1:p.Tyr266His
NM_001297417.2:c.563-9279T>C NP_001284346.2:n.563-9279T>C
NM_016180.4:c.796T>C NP_057264.3:p.Tyr266His
XM_011514051.1:c.394T>C XP_011512353.1:p.Tyr132His
XM_011514052.1:c.796T>C XP_011512354.1:p.Tyr266His
XR_925620.1:n.1613T>C
NM_016180.5:c.796T>C MANE Select NP_057264.4:p.Tyr266His
NM_001012509.4:c.796T>C NP_001012527.2:p.Tyr266His
NM_001297417.3:c.563-9279T>C NP_001284346.2:n.563-9279T>C
NM_001297417.4:c.563-9279T>C NP_001284346.2:n.563-9279T>C