Canonical Allele Identifier: CA359393790
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963854A>T , CM000667.2:g.33963854A>T GRCh38
NC_000005.9:g.33963959A>T , CM000667.1:g.33963959A>T GRCh37
NC_000005.8:g.33999716A>T NCBI36
NG_011691.2:g.25822T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.725T>A MANE Select ENSP00000296589.4:p.Leu242His
ENST00000296589.8:c.725T>A ENSP00000296589.4:p.Leu242His
ENST00000382102.7:c.725T>A ENSP00000371534.3:p.Leu242His
ENST00000505056.1:n.527T>A
ENST00000509381.1:c.563-9350T>A ENSP00000421100.1:n.563-9350T>A
ENST00000510600.1:c.200T>A ENSP00000424010.1:p.Leu67His
NM_001012509.3:c.725T>A NP_001012527.1:p.Leu242His
NM_001297417.2:c.563-9350T>A NP_001284346.2:n.563-9350T>A
NM_016180.4:c.725T>A NP_057264.3:p.Leu242His
XM_011514051.1:c.323T>A XP_011512353.1:p.Leu108His
XM_011514052.1:c.725T>A XP_011512354.1:p.Leu242His
XR_925620.1:n.1542T>A
NM_016180.5:c.725T>A MANE Select NP_057264.4:p.Leu242His
NM_001012509.4:c.725T>A NP_001012527.2:p.Leu242His
NM_001297417.3:c.563-9350T>A NP_001284346.2:n.563-9350T>A
NM_001297417.4:c.563-9350T>A NP_001284346.2:n.563-9350T>A