Canonical Allele Identifier: CA359393292
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963767A>G , CM000667.2:g.33963767A>G GRCh38
NC_000005.9:g.33963872A>G , CM000667.1:g.33963872A>G GRCh37
NC_000005.8:g.33999629A>G NCBI36
NG_011691.2:g.25909T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.812T>C MANE Select ENSP00000296589.4:p.Ile271Thr
ENST00000296589.8:c.812T>C ENSP00000296589.4:p.Ile271Thr
ENST00000382102.7:c.812T>C ENSP00000371534.3:p.Ile271Thr
ENST00000505056.1:n.614T>C
ENST00000509381.1:c.563-9263T>C ENSP00000421100.1:n.563-9263T>C
ENST00000510600.1:c.287T>C ENSP00000424010.1:p.Ile96Thr
NM_001012509.3:c.812T>C NP_001012527.1:p.Ile271Thr
NM_001297417.2:c.563-9263T>C NP_001284346.2:n.563-9263T>C
NM_016180.4:c.812T>C NP_057264.3:p.Ile271Thr
XM_011514051.1:c.410T>C XP_011512353.1:p.Ile137Thr
XM_011514052.1:c.812T>C XP_011512354.1:p.Ile271Thr
XR_925620.1:n.1629T>C
NM_016180.5:c.812T>C MANE Select NP_057264.4:p.Ile271Thr
NM_001012509.4:c.812T>C NP_001012527.2:p.Ile271Thr
NM_001297417.3:c.563-9263T>C NP_001284346.2:n.563-9263T>C
NM_001297417.4:c.563-9263T>C NP_001284346.2:n.563-9263T>C