Canonical Allele Identifier: CA3225672

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1641569
• ClinVar RCV Id: RCV002140218
• dbSNP Id: rs775554802
• ExAC: 5:33963776 A / T
• gnomAD v2: 5-33963776-A-T
• gnomAD v3: 5-33963671-A-T
• gnomAD v4: 5-33963671-A-T
• MyVariant Identifiers: chr5:g.33963776A>T (hg19) ; chr5:g.33963671A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963671A>T , CM000667.2:g.33963671A>T	GRCh38
NC_000005.9:g.33963776A>T , CM000667.1:g.33963776A>T	GRCh37
NC_000005.8:g.33999533A>T	NCBI36
NG_011691.2:g.26005T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.888+20T>A MANE Select	ENSP00000296589.4:n.888+20T>A
ENST00000296589.8:c.888+20T>A	ENSP00000296589.4:n.888+20T>A
ENST00000382102.7:c.888+20T>A	ENSP00000371534.3:n.888+20T>A
ENST00000505056.1:n.710T>A
ENST00000509381.1:c.563-9167T>A	ENSP00000421100.1:n.563-9167T>A
ENST00000510600.1:c.363+20T>A	ENSP00000424010.1:n.363+20T>A
NM_001012509.3:c.888+20T>A	NP_001012527.1:n.888+20T>A
NM_001297417.2:c.563-9167T>A	NP_001284346.2:n.563-9167T>A
NM_016180.4:c.888+20T>A	NP_057264.3:n.888+20T>A
XM_011514051.1:c.486+20T>A	XP_011512353.1:n.486+20T>A
XM_011514052.1:c.888+20T>A	XP_011512354.1:n.888+20T>A
XR_925620.1:n.1705+20T>A
NM_016180.5:c.888+20T>A MANE Select	NP_057264.4:n.888+20T>A
NM_001012509.4:c.888+20T>A	NP_001012527.2:n.888+20T>A
NM_001297417.3:c.563-9167T>A	NP_001284346.2:n.563-9167T>A
NM_001297417.4:c.563-9167T>A	NP_001284346.2:n.563-9167T>A