Canonical Allele Identifier: CA1538211739
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951674C= , CM000667.2:g.33951674C= GRCh38
NC_000005.9:g.33951779C= , CM000667.1:g.33951779C= GRCh37
NC_000005.8:g.33987536C= NCBI36
NG_011691.2:g.38002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1036G= MANE Select ENSP00000296589.4:p.Val346=
ENST00000296589.8:c.1036G= ENSP00000296589.4:p.Val346=
ENST00000382102.7:c.1036G= ENSP00000371534.3:p.Val346=
ENST00000509381.1:c.710G= ENSP00000421100.1:p.Cys237=
ENST00000510600.1:c.511G= ENSP00000424010.1:p.Val171=
NM_001012509.3:c.1036G= NP_001012527.1:p.Val346=
NM_001297417.2:c.710G= NP_001284346.2:p.Cys237=
NM_016180.4:c.1036G= NP_057264.3:p.Val346=
XM_011514051.1:c.634G= XP_011512353.1:p.Val212=
XR_925620.1:n.1853G=
NM_016180.5:c.1036G= MANE Select NP_057264.4:p.Val346=
NM_001012509.4:c.1036G= NP_001012527.2:p.Val346=
NM_001297417.3:c.710G= NP_001284346.2:p.Cys237=
NM_001297417.4:c.710G= NP_001284346.2:p.Cys237=