Canonical Allele Identifier: CA359397411

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2734709
• ClinVar RCV Id: RCV003555180
• dbSNP Id: rs1561375148
• gnomAD v4: 5-33984286-C-T
• MyVariant Identifiers: chr5:g.33984391C>T (hg19) ; chr5:g.33984286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984286C>T , CM000667.2:g.33984286C>T	GRCh38
NC_000005.9:g.33984391C>T , CM000667.1:g.33984391C>T	GRCh37
NC_000005.8:g.34020148C>T	NCBI36
NG_011691.2:g.5390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.298G>A MANE Select	ENSP00000296589.4:p.Gly100Ser
ENST00000296589.8:c.298G>A	ENSP00000296589.4:p.Gly100Ser
ENST00000382102.7:c.298G>A	ENSP00000371534.3:p.Gly100Ser
ENST00000505056.1:n.277G>A
ENST00000509381.1:c.298G>A	ENSP00000421100.1:p.Gly100Ser
NM_001012509.3:c.298G>A	NP_001012527.1:p.Gly100Ser
NM_001297417.2:c.298G>A	NP_001284346.2:p.Gly100Ser
NM_016180.4:c.298G>A	NP_057264.3:p.Gly100Ser
XM_011514052.1:c.298G>A	XP_011512354.1:p.Gly100Ser
XR_925620.1:n.859G>A
NM_016180.5:c.298G>A MANE Select	NP_057264.4:p.Gly100Ser
NM_001012509.4:c.298G>A	NP_001012527.2:p.Gly100Ser
NM_001297417.3:c.298G>A	NP_001284346.2:p.Gly100Ser
NM_001297417.4:c.298G>A	NP_001284346.2:p.Gly100Ser