Canonical Allele Identifier: CA359387282
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944793A>G , CM000667.2:g.33944793A>G GRCh38
NC_000005.9:g.33944898A>G , CM000667.1:g.33944898A>G GRCh37
NC_000005.8:g.33980655A>G NCBI36
NG_011691.2:g.44883T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1448T>C MANE Select ENSP00000296589.4:p.Val483Ala
ENST00000296589.8:c.1448T>C ENSP00000296589.4:p.Val483Ala
NM_016180.4:c.1448T>C NP_057264.3:p.Val483Ala
XM_011514051.1:c.1046T>C XP_011512353.1:p.Val349Ala
NM_016180.5:c.1448T>C MANE Select NP_057264.4:p.Val483Ala