Canonical Allele Identifier: CA3225696

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1536716
• ClinVar RCV Id: RCV002166777
• dbSNP Id: rs201104968
• ExAC: 5:33963881 T / C
• gnomAD v2: 5-33963881-T-C
• gnomAD v3: 5-33963776-T-C
• gnomAD v4: 5-33963776-T-C
• MyVariant Identifiers: chr5:g.33963881T>C (hg19) ; chr5:g.33963776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963776T>C , CM000667.2:g.33963776T>C	GRCh38
NC_000005.9:g.33963881T>C , CM000667.1:g.33963881T>C	GRCh37
NC_000005.8:g.33999638T>C	NCBI36
NG_011691.2:g.25900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.803A>G MANE Select	ENSP00000296589.4:p.Tyr268Cys
ENST00000296589.8:c.803A>G	ENSP00000296589.4:p.Tyr268Cys
ENST00000382102.7:c.803A>G	ENSP00000371534.3:p.Tyr268Cys
ENST00000505056.1:n.605A>G
ENST00000509381.1:c.563-9272A>G	ENSP00000421100.1:n.563-9272A>G
ENST00000510600.1:c.278A>G	ENSP00000424010.1:p.Tyr93Cys
NM_001012509.3:c.803A>G	NP_001012527.1:p.Tyr268Cys
NM_001297417.2:c.563-9272A>G	NP_001284346.2:n.563-9272A>G
NM_016180.4:c.803A>G	NP_057264.3:p.Tyr268Cys
XM_011514051.1:c.401A>G	XP_011512353.1:p.Tyr134Cys
XM_011514052.1:c.803A>G	XP_011512354.1:p.Tyr268Cys
XR_925620.1:n.1620A>G
NM_016180.5:c.803A>G MANE Select	NP_057264.4:p.Tyr268Cys
NM_001012509.4:c.803A>G	NP_001012527.2:p.Tyr268Cys
NM_001297417.3:c.563-9272A>G	NP_001284346.2:n.563-9272A>G
NM_001297417.4:c.563-9272A>G	NP_001284346.2:n.563-9272A>G