Canonical Allele Identifier: CA359394342

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33964085A>T (hg19) ; chr5:g.33963980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963980A>T , CM000667.2:g.33963980A>T	GRCh38
NC_000005.9:g.33964085A>T , CM000667.1:g.33964085A>T	GRCh37
NC_000005.8:g.33999842A>T	NCBI36
NG_011691.2:g.25696T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.599T>A MANE Select	ENSP00000296589.4:p.Ile200Lys
ENST00000296589.8:c.599T>A	ENSP00000296589.4:p.Ile200Lys
ENST00000382102.7:c.599T>A	ENSP00000371534.3:p.Ile200Lys
ENST00000505056.1:n.401T>A
ENST00000509381.1:c.563-9476T>A	ENSP00000421100.1:n.563-9476T>A
ENST00000510600.1:c.74T>A	ENSP00000424010.1:p.Ile25Lys
NM_001012509.3:c.599T>A	NP_001012527.1:p.Ile200Lys
NM_001297417.2:c.563-9476T>A	NP_001284346.2:n.563-9476T>A
NM_016180.4:c.599T>A	NP_057264.3:p.Ile200Lys
XM_011514051.1:c.197T>A	XP_011512353.1:p.Ile66Lys
XM_011514052.1:c.599T>A	XP_011512354.1:p.Ile200Lys
XR_925620.1:n.1416T>A
NM_016180.5:c.599T>A MANE Select	NP_057264.4:p.Ile200Lys
NM_001012509.4:c.599T>A	NP_001012527.2:p.Ile200Lys
NM_001297417.3:c.563-9476T>A	NP_001284346.2:n.563-9476T>A
NM_001297417.4:c.563-9476T>A	NP_001284346.2:n.563-9476T>A