Canonical Allele Identifier: CA1538211738
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951673A= , CM000667.2:g.33951673A= GRCh38
NC_000005.9:g.33951778A= , CM000667.1:g.33951778A= GRCh37
NC_000005.8:g.33987535A= NCBI36
NG_011691.2:g.38003T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1037T= MANE Select ENSP00000296589.4:p.Val346=
ENST00000296589.8:c.1037T= ENSP00000296589.4:p.Val346=
ENST00000382102.7:c.1037T= ENSP00000371534.3:p.Val346=
ENST00000509381.1:c.711T= ENSP00000421100.1:p.Cys237=
ENST00000510600.1:c.512T= ENSP00000424010.1:p.Val171=
NM_001012509.3:c.1037T= NP_001012527.1:p.Val346=
NM_001297417.2:c.711T= NP_001284346.2:p.Cys237=
NM_016180.4:c.1037T= NP_057264.3:p.Val346=
XM_011514051.1:c.635T= XP_011512353.1:p.Val212=
XR_925620.1:n.1854T=
NM_016180.5:c.1037T= MANE Select NP_057264.4:p.Val346=
NM_001012509.4:c.1037T= NP_001012527.2:p.Val346=
NM_001297417.3:c.711T= NP_001284346.2:p.Cys237=
NM_001297417.4:c.711T= NP_001284346.2:p.Cys237=