Canonical Allele Identifier: CA359393433
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963788C>A , CM000667.2:g.33963788C>A GRCh38
NC_000005.9:g.33963893C>A , CM000667.1:g.33963893C>A GRCh37
NC_000005.8:g.33999650C>A NCBI36
NG_011691.2:g.25888G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.791G>T MANE Select ENSP00000296589.4:p.Gly264Val
ENST00000296589.8:c.791G>T ENSP00000296589.4:p.Gly264Val
ENST00000382102.7:c.791G>T ENSP00000371534.3:p.Gly264Val
ENST00000505056.1:n.593G>T
ENST00000509381.1:c.563-9284G>T ENSP00000421100.1:n.563-9284G>T
ENST00000510600.1:c.266G>T ENSP00000424010.1:p.Gly89Val
NM_001012509.3:c.791G>T NP_001012527.1:p.Gly264Val
NM_001297417.2:c.563-9284G>T NP_001284346.2:n.563-9284G>T
NM_016180.4:c.791G>T NP_057264.3:p.Gly264Val
XM_011514051.1:c.389G>T XP_011512353.1:p.Gly130Val
XM_011514052.1:c.791G>T XP_011512354.1:p.Gly264Val
XR_925620.1:n.1608G>T
NM_016180.5:c.791G>T MANE Select NP_057264.4:p.Gly264Val
NM_001012509.4:c.791G>T NP_001012527.2:p.Gly264Val
NM_001297417.3:c.563-9284G>T NP_001284346.2:n.563-9284G>T
NM_001297417.4:c.563-9284G>T NP_001284346.2:n.563-9284G>T