Canonical Allele Identifier: CA443803059
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33963871G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963766G>T , CM000667.2:g.33963766G>T GRCh38
NC_000005.9:g.33963871G>T , CM000667.1:g.33963871G>T GRCh37
NC_000005.8:g.33999628G>T NCBI36
NG_011691.2:g.25910C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.813C>A MANE Select ENSP00000296589.4:p.Ile271=
ENST00000296589.8:c.813C>A ENSP00000296589.4:p.Ile271=
ENST00000382102.7:c.813C>A ENSP00000371534.3:p.Ile271=
ENST00000505056.1:n.615C>A
ENST00000509381.1:c.563-9262C>A ENSP00000421100.1:n.563-9262C>A
ENST00000510600.1:c.288C>A ENSP00000424010.1:p.Ile96=
NM_001012509.3:c.813C>A NP_001012527.1:p.Ile271=
NM_001297417.2:c.563-9262C>A NP_001284346.2:n.563-9262C>A
NM_016180.4:c.813C>A NP_057264.3:p.Ile271=
XM_011514051.1:c.411C>A XP_011512353.1:p.Ile137=
XM_011514052.1:c.813C>A XP_011512354.1:p.Ile271=
XR_925620.1:n.1630C>A
NM_016180.5:c.813C>A MANE Select NP_057264.4:p.Ile271=
NM_001012509.4:c.813C>A NP_001012527.2:p.Ile271=
NM_001297417.3:c.563-9262C>A NP_001284346.2:n.563-9262C>A
NM_001297417.4:c.563-9262C>A NP_001284346.2:n.563-9262C>A