Canonical Allele Identifier: CA1538211687
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951579G= , CM000667.2:g.33951579G= GRCh38
NC_000005.9:g.33951684G= , CM000667.1:g.33951684G= GRCh37
NC_000005.8:g.33987441G= NCBI36
NG_011691.2:g.38097C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1131C= MANE Select ENSP00000296589.4:p.Asn377=
ENST00000296589.8:c.1131C= ENSP00000296589.4:p.Asn377=
ENST00000382102.7:c.1131C= ENSP00000371534.3:p.Asn377=
ENST00000509381.1:c.*73C= ENSP00000421100.1:n.*73C=
ENST00000510600.1:c.606C= ENSP00000424010.1:p.Asn202=
NM_001012509.3:c.1131C= NP_001012527.1:p.Asn377=
NM_001297417.2:c.*73C= NP_001284346.2:n.*73C=
NM_016180.4:c.1131C= NP_057264.3:p.Asn377=
XM_011514051.1:c.729C= XP_011512353.1:p.Asn243=
XR_925620.1:n.1948C=
NM_016180.5:c.1131C= MANE Select NP_057264.4:p.Asn377=
NM_001012509.4:c.1131C= NP_001012527.2:p.Asn377=
NM_001297417.3:c.*73C= NP_001284346.2:n.*73C=
NM_001297417.4:c.*73C= NP_001284346.2:n.*73C=