Canonical Allele Identifier: CA359394144

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33964038G>T (hg19) ; chr5:g.33963933G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963933G>T , CM000667.2:g.33963933G>T	GRCh38
NC_000005.9:g.33964038G>T , CM000667.1:g.33964038G>T	GRCh37
NC_000005.8:g.33999795G>T	NCBI36
NG_011691.2:g.25743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.646C>A MANE Select	ENSP00000296589.4:p.Gln216Lys
ENST00000296589.8:c.646C>A	ENSP00000296589.4:p.Gln216Lys
ENST00000382102.7:c.646C>A	ENSP00000371534.3:p.Gln216Lys
ENST00000505056.1:n.448C>A
ENST00000509381.1:c.563-9429C>A	ENSP00000421100.1:n.563-9429C>A
ENST00000510600.1:c.121C>A	ENSP00000424010.1:p.Gln41Lys
NM_001012509.3:c.646C>A	NP_001012527.1:p.Gln216Lys
NM_001297417.2:c.563-9429C>A	NP_001284346.2:n.563-9429C>A
NM_016180.4:c.646C>A	NP_057264.3:p.Gln216Lys
XM_011514051.1:c.244C>A	XP_011512353.1:p.Gln82Lys
XM_011514052.1:c.646C>A	XP_011512354.1:p.Gln216Lys
XR_925620.1:n.1463C>A
NM_016180.5:c.646C>A MANE Select	NP_057264.4:p.Gln216Lys
NM_001012509.4:c.646C>A	NP_001012527.2:p.Gln216Lys
NM_001297417.3:c.563-9429C>A	NP_001284346.2:n.563-9429C>A
NM_001297417.4:c.563-9429C>A	NP_001284346.2:n.563-9429C>A