Canonical Allele Identifier: CA3225582

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1338353
• ClinVar RCV Id: RCV001817724
• dbSNP Id: rs143764115
• ExAC: 5:33951706 C / T
• gnomAD v2: 5-33951706-C-T
• gnomAD v3: 5-33951601-C-T
• gnomAD v4: 5-33951601-C-T
• MyVariant Identifiers: chr5:g.33951706C>T (hg19) ; chr5:g.33951601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951601C>T , CM000667.2:g.33951601C>T	GRCh38
NC_000005.9:g.33951706C>T , CM000667.1:g.33951706C>T	GRCh37
NC_000005.8:g.33987463C>T	NCBI36
NG_011691.2:g.38075G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1109G>A MANE Select	ENSP00000296589.4:p.Gly370Glu
ENST00000296589.8:c.1109G>A	ENSP00000296589.4:p.Gly370Glu
ENST00000382102.7:c.1109G>A	ENSP00000371534.3:p.Gly370Glu
ENST00000509381.1:c.*51G>A	ENSP00000421100.1:n.*51G>A
ENST00000510600.1:c.584G>A	ENSP00000424010.1:p.Gly195Glu
NM_001012509.3:c.1109G>A	NP_001012527.1:p.Gly370Glu
NM_001297417.2:c.*51G>A	NP_001284346.2:n.*51G>A
NM_016180.4:c.1109G>A	NP_057264.3:p.Gly370Glu
XM_011514051.1:c.707G>A	XP_011512353.1:p.Gly236Glu
XR_925620.1:n.1926G>A
NM_016180.5:c.1109G>A MANE Select	NP_057264.4:p.Gly370Glu
NM_001012509.4:c.1109G>A	NP_001012527.2:p.Gly370Glu
NM_001297417.3:c.*51G>A	NP_001284346.2:n.*51G>A
NM_001297417.4:c.*51G>A	NP_001284346.2:n.*51G>A