Canonical Allele Identifier: CA359389979

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951742G>T (hg19) ; chr5:g.33951637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951637G>T , CM000667.2:g.33951637G>T	GRCh38
NC_000005.9:g.33951742G>T , CM000667.1:g.33951742G>T	GRCh37
NC_000005.8:g.33987499G>T	NCBI36
NG_011691.2:g.38039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1073C>A MANE Select	ENSP00000296589.4:p.Thr358Lys
ENST00000296589.8:c.1073C>A	ENSP00000296589.4:p.Thr358Lys
ENST00000382102.7:c.1073C>A	ENSP00000371534.3:p.Thr358Lys
ENST00000509381.1:c.*15C>A	ENSP00000421100.1:n.*15C>A
ENST00000510600.1:c.548C>A	ENSP00000424010.1:p.Thr183Lys
NM_001012509.3:c.1073C>A	NP_001012527.1:p.Thr358Lys
NM_001297417.2:c.*15C>A	NP_001284346.2:n.*15C>A
NM_016180.4:c.1073C>A	NP_057264.3:p.Thr358Lys
XM_011514051.1:c.671C>A	XP_011512353.1:p.Thr224Lys
XR_925620.1:n.1890C>A
NM_016180.5:c.1073C>A MANE Select	NP_057264.4:p.Thr358Lys
NM_001012509.4:c.1073C>A	NP_001012527.2:p.Thr358Lys
NM_001297417.3:c.*15C>A	NP_001284346.2:n.*15C>A
NM_001297417.4:c.*15C>A	NP_001284346.2:n.*15C>A