Canonical Allele Identifier: CA359393155
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963749C>A , CM000667.2:g.33963749C>A GRCh38
NC_000005.9:g.33963854C>A , CM000667.1:g.33963854C>A GRCh37
NC_000005.8:g.33999611C>A NCBI36
NG_011691.2:g.25927G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.830G>T MANE Select ENSP00000296589.4:p.Gly277Val
ENST00000296589.8:c.830G>T ENSP00000296589.4:p.Gly277Val
ENST00000382102.7:c.830G>T ENSP00000371534.3:p.Gly277Val
ENST00000505056.1:n.632G>T
ENST00000509381.1:c.563-9245G>T ENSP00000421100.1:n.563-9245G>T
ENST00000510600.1:c.305G>T ENSP00000424010.1:p.Gly102Val
NM_001012509.3:c.830G>T NP_001012527.1:p.Gly277Val
NM_001297417.2:c.563-9245G>T NP_001284346.2:n.563-9245G>T
NM_016180.4:c.830G>T NP_057264.3:p.Gly277Val
XM_011514051.1:c.428G>T XP_011512353.1:p.Gly143Val
XM_011514052.1:c.830G>T XP_011512354.1:p.Gly277Val
XR_925620.1:n.1647G>T
NM_016180.5:c.830G>T MANE Select NP_057264.4:p.Gly277Val
NM_001012509.4:c.830G>T NP_001012527.2:p.Gly277Val
NM_001297417.3:c.563-9245G>T NP_001284346.2:n.563-9245G>T
NM_001297417.4:c.563-9245G>T NP_001284346.2:n.563-9245G>T