Canonical Allele Identifier: CA359397473

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1382382
• ClinVar RCV Id: RCV001890242
• dbSNP Id: rs952902764
• gnomAD v4: 5-33984315-G-C
• MyVariant Identifiers: chr5:g.33984420G>C (hg19) ; chr5:g.33984315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984315G>C , CM000667.2:g.33984315G>C	GRCh38
NC_000005.9:g.33984420G>C , CM000667.1:g.33984420G>C	GRCh37
NC_000005.8:g.34020177G>C	NCBI36
NG_011691.2:g.5361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.269C>G MANE Select	ENSP00000296589.4:p.Ser90Trp
ENST00000296589.8:c.269C>G	ENSP00000296589.4:p.Ser90Trp
ENST00000382102.7:c.269C>G	ENSP00000371534.3:p.Ser90Trp
ENST00000505056.1:n.248C>G
ENST00000509381.1:c.269C>G	ENSP00000421100.1:p.Ser90Trp
NM_001012509.3:c.269C>G	NP_001012527.1:p.Ser90Trp
NM_001297417.2:c.269C>G	NP_001284346.2:p.Ser90Trp
NM_016180.4:c.269C>G	NP_057264.3:p.Ser90Trp
XM_011514052.1:c.269C>G	XP_011512354.1:p.Ser90Trp
XR_925620.1:n.830C>G
NM_016180.5:c.269C>G MANE Select	NP_057264.4:p.Ser90Trp
NM_001012509.4:c.269C>G	NP_001012527.2:p.Ser90Trp
NM_001297417.3:c.269C>G	NP_001284346.2:p.Ser90Trp
NM_001297417.4:c.269C>G	NP_001284346.2:p.Ser90Trp