Canonical Allele Identifier: CA116899
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4504
dbSNP Id: rs26722

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963765C>T , CM000667.2:g.33963765C>T GRCh38
NC_000005.9:g.33963870C>T , CM000667.1:g.33963870C>T GRCh37
NC_000005.8:g.33999627C>T NCBI36
NG_011691.2:g.25911G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.814G>A MANE Select ENSP00000296589.4:p.Glu272Lys
ENST00000296589.8:c.814G>A ENSP00000296589.4:p.Glu272Lys
ENST00000382102.7:c.814G>A ENSP00000371534.3:p.Glu272Lys
ENST00000505056.1:n.616G>A
ENST00000509381.1:c.563-9261G>A ENSP00000421100.1:p.=
ENST00000510600.1:c.289G>A ENSP00000424010.1:p.Glu97Lys
NM_001012509.3:c.814G>A NP_001012527.1:p.Glu272Lys
NM_001297417.2:c.563-9261G>A NP_001284346.2:p.=
NM_016180.4:c.814G>A NP_057264.3:p.Glu272Lys
XM_011514051.1:c.412G>A XP_011512353.1:p.Glu138Lys
XM_011514052.1:c.814G>A XP_011512354.1:p.Glu272Lys
XR_925620.1:n.1631G>A
NM_016180.5:c.814G>A MANE Select NP_057264.4:p.Glu272Lys
NM_001012509.4:c.814G>A NP_001012527.2:p.Glu272Lys
NM_001297417.3:c.563-9261G>A NP_001284346.2:p.=
NM_001297417.4:c.563-9261G>A NP_001284346.2:p.=