Canonical Allele Identifier: CA443803021
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33963820T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963715T>A , CM000667.2:g.33963715T>A GRCh38
NC_000005.9:g.33963820T>A , CM000667.1:g.33963820T>A GRCh37
NC_000005.8:g.33999577T>A NCBI36
NG_011691.2:g.25961A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.864A>T MANE Select ENSP00000296589.4:p.Ala288=
ENST00000296589.8:c.864A>T ENSP00000296589.4:p.Ala288=
ENST00000382102.7:c.864A>T ENSP00000371534.3:p.Ala288=
ENST00000505056.1:n.666A>T
ENST00000509381.1:c.563-9211A>T ENSP00000421100.1:n.563-9211A>T
ENST00000510600.1:c.339A>T ENSP00000424010.1:p.Ala113=
NM_001012509.3:c.864A>T NP_001012527.1:p.Ala288=
NM_001297417.2:c.563-9211A>T NP_001284346.2:n.563-9211A>T
NM_016180.4:c.864A>T NP_057264.3:p.Ala288=
XM_011514051.1:c.462A>T XP_011512353.1:p.Ala154=
XM_011514052.1:c.864A>T XP_011512354.1:p.Ala288=
XR_925620.1:n.1681A>T
NM_016180.5:c.864A>T MANE Select NP_057264.4:p.Ala288=
NM_001012509.4:c.864A>T NP_001012527.2:p.Ala288=
NM_001297417.3:c.563-9211A>T NP_001284346.2:n.563-9211A>T
NM_001297417.4:c.563-9211A>T NP_001284346.2:n.563-9211A>T