Canonical Allele Identifier: CA443659233
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33951741T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951636T>C , CM000667.2:g.33951636T>C GRCh38
NC_000005.9:g.33951741T>C , CM000667.1:g.33951741T>C GRCh37
NC_000005.8:g.33987498T>C NCBI36
NG_011691.2:g.38040A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1074A>G MANE Select ENSP00000296589.4:p.Thr358=
ENST00000296589.8:c.1074A>G ENSP00000296589.4:p.Thr358=
ENST00000382102.7:c.1074A>G ENSP00000371534.3:p.Thr358=
ENST00000509381.1:c.*16A>G ENSP00000421100.1:n.*16A>G
ENST00000510600.1:c.549A>G ENSP00000424010.1:p.Thr183=
NM_001012509.3:c.1074A>G NP_001012527.1:p.Thr358=
NM_001297417.2:c.*16A>G NP_001284346.2:n.*16A>G
NM_016180.4:c.1074A>G NP_057264.3:p.Thr358=
XM_011514051.1:c.672A>G XP_011512353.1:p.Thr224=
XR_925620.1:n.1891A>G
NM_016180.5:c.1074A>G MANE Select NP_057264.4:p.Thr358=
NM_001012509.4:c.1074A>G NP_001012527.2:p.Thr358=
NM_001297417.3:c.*16A>G NP_001284346.2:n.*16A>G
NM_001297417.4:c.*16A>G NP_001284346.2:n.*16A>G