Canonical Allele Identifier: CA443803067
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33963892T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963787T>G , CM000667.2:g.33963787T>G GRCh38
NC_000005.9:g.33963892T>G , CM000667.1:g.33963892T>G GRCh37
NC_000005.8:g.33999649T>G NCBI36
NG_011691.2:g.25889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.792A>C MANE Select ENSP00000296589.4:p.Gly264=
ENST00000296589.8:c.792A>C ENSP00000296589.4:p.Gly264=
ENST00000382102.7:c.792A>C ENSP00000371534.3:p.Gly264=
ENST00000505056.1:n.594A>C
ENST00000509381.1:c.563-9283A>C ENSP00000421100.1:n.563-9283A>C
ENST00000510600.1:c.267A>C ENSP00000424010.1:p.Gly89=
NM_001012509.3:c.792A>C NP_001012527.1:p.Gly264=
NM_001297417.2:c.563-9283A>C NP_001284346.2:n.563-9283A>C
NM_016180.4:c.792A>C NP_057264.3:p.Gly264=
XM_011514051.1:c.390A>C XP_011512353.1:p.Gly130=
XM_011514052.1:c.792A>C XP_011512354.1:p.Gly264=
XR_925620.1:n.1609A>C
NM_016180.5:c.792A>C MANE Select NP_057264.4:p.Gly264=
NM_001012509.4:c.792A>C NP_001012527.2:p.Gly264=
NM_001297417.3:c.563-9283A>C NP_001284346.2:n.563-9283A>C
NM_001297417.4:c.563-9283A>C NP_001284346.2:n.563-9283A>C