Canonical Allele Identifier: CA443872571
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1753187087
MyVariant Identifiers: chr5:g.33984589T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984484T>G , CM000667.2:g.33984484T>G GRCh38
NC_000005.9:g.33984589T>G , CM000667.1:g.33984589T>G GRCh37
NC_000005.8:g.34020346T>G NCBI36
NG_011691.2:g.5192A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.100A>C MANE Select ENSP00000296589.4:p.Arg34=
ENST00000296589.8:c.100A>C ENSP00000296589.4:p.Arg34=
ENST00000382102.7:c.100A>C ENSP00000371534.3:p.Arg34=
ENST00000505056.1:n.79A>C
ENST00000509381.1:c.100A>C ENSP00000421100.1:p.Arg34=
NM_001012509.3:c.100A>C NP_001012527.1:p.Arg34=
NM_001297417.2:c.100A>C NP_001284346.2:p.Arg34=
NM_016180.4:c.100A>C NP_057264.3:p.Arg34=
XM_011514052.1:c.100A>C XP_011512354.1:p.Arg34=
XR_925620.1:n.661A>C
NM_016180.5:c.100A>C MANE Select NP_057264.4:p.Arg34=
NM_001012509.4:c.100A>C NP_001012527.2:p.Arg34=
NM_001297417.3:c.100A>C NP_001284346.2:p.Arg34=
NM_001297417.4:c.100A>C NP_001284346.2:p.Arg34=