Canonical Allele Identifier: CA359393876

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33963979G>C (hg19) ; chr5:g.33963874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963874G>C , CM000667.2:g.33963874G>C	GRCh38
NC_000005.9:g.33963979G>C , CM000667.1:g.33963979G>C	GRCh37
NC_000005.8:g.33999736G>C	NCBI36
NG_011691.2:g.25802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.705C>G MANE Select	ENSP00000296589.4:p.Cys235Trp
ENST00000296589.8:c.705C>G	ENSP00000296589.4:p.Cys235Trp
ENST00000382102.7:c.705C>G	ENSP00000371534.3:p.Cys235Trp
ENST00000505056.1:n.507C>G
ENST00000509381.1:c.563-9370C>G	ENSP00000421100.1:n.563-9370C>G
ENST00000510600.1:c.180C>G	ENSP00000424010.1:p.Cys60Trp
NM_001012509.3:c.705C>G	NP_001012527.1:p.Cys235Trp
NM_001297417.2:c.563-9370C>G	NP_001284346.2:n.563-9370C>G
NM_016180.4:c.705C>G	NP_057264.3:p.Cys235Trp
XM_011514051.1:c.303C>G	XP_011512353.1:p.Cys101Trp
XM_011514052.1:c.705C>G	XP_011512354.1:p.Cys235Trp
XR_925620.1:n.1522C>G
NM_016180.5:c.705C>G MANE Select	NP_057264.4:p.Cys235Trp
NM_001012509.4:c.705C>G	NP_001012527.2:p.Cys235Trp
NM_001297417.3:c.563-9370C>G	NP_001284346.2:n.563-9370C>G
NM_001297417.4:c.563-9370C>G	NP_001284346.2:n.563-9370C>G