Canonical Allele Identifier: CA3225837
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476655
ClinVar RCV Id: RCV001978060 RCV002283574 RCV002479639 RCV003408040
dbSNP Id: rs755311638
ExAC: 5:33984415 T / C
gnomAD v2: 5-33984415-T-C
gnomAD v3: 5-33984310-T-C
gnomAD v4: 5-33984310-T-C
MyVariant Identifiers: chr5:g.33984415T>C (hg19) chr5:g.33984310T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984310T>C , CM000667.2:g.33984310T>C GRCh38
NC_000005.9:g.33984415T>C , CM000667.1:g.33984415T>C GRCh37
NC_000005.8:g.34020172T>C NCBI36
NG_011691.2:g.5366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.274A>G MANE Select ENSP00000296589.4:p.Ser92Gly
ENST00000296589.8:c.274A>G ENSP00000296589.4:p.Ser92Gly
ENST00000382102.7:c.274A>G ENSP00000371534.3:p.Ser92Gly
ENST00000505056.1:n.253A>G
ENST00000509381.1:c.274A>G ENSP00000421100.1:p.Ser92Gly
NM_001012509.3:c.274A>G NP_001012527.1:p.Ser92Gly
NM_001297417.2:c.274A>G NP_001284346.2:p.Ser92Gly
NM_016180.4:c.274A>G NP_057264.3:p.Ser92Gly
XM_011514052.1:c.274A>G XP_011512354.1:p.Ser92Gly
XR_925620.1:n.835A>G
NM_016180.5:c.274A>G MANE Select NP_057264.4:p.Ser92Gly
NM_001012509.4:c.274A>G NP_001012527.2:p.Ser92Gly
NM_001297417.3:c.274A>G NP_001284346.2:p.Ser92Gly
NM_001297417.4:c.274A>G NP_001284346.2:p.Ser92Gly
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