Canonical Allele Identifier: CA3225740

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2872794
• ClinVar RCV Id: RCV003707062
• dbSNP Id: rs369597359
• ExAC: 5:33964099 G / A
• gnomAD v2: 5-33964099-G-A
• gnomAD v3: 5-33963994-G-A
• gnomAD v4: 5-33963994-G-A
• MyVariant Identifiers: chr5:g.33964099G>A (hg19) ; chr5:g.33963994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963994G>A , CM000667.2:g.33963994G>A	GRCh38
NC_000005.9:g.33964099G>A , CM000667.1:g.33964099G>A	GRCh37
NC_000005.8:g.33999856G>A	NCBI36
NG_011691.2:g.25682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.585C>T MANE Select	ENSP00000296589.4:p.Tyr195=
ENST00000296589.8:c.585C>T	ENSP00000296589.4:p.Tyr195=
ENST00000382102.7:c.585C>T	ENSP00000371534.3:p.Tyr195=
ENST00000505056.1:n.387C>T
ENST00000509381.1:c.563-9490C>T	ENSP00000421100.1:n.563-9490C>T
ENST00000510600.1:c.60C>T	ENSP00000424010.1:p.Tyr20=
NM_001012509.3:c.585C>T	NP_001012527.1:p.Tyr195=
NM_001297417.2:c.563-9490C>T	NP_001284346.2:n.563-9490C>T
NM_016180.4:c.585C>T	NP_057264.3:p.Tyr195=
XM_011514051.1:c.183C>T	XP_011512353.1:p.Tyr61=
XM_011514052.1:c.585C>T	XP_011512354.1:p.Tyr195=
XR_925620.1:n.1402C>T
NM_016180.5:c.585C>T MANE Select	NP_057264.4:p.Tyr195=
NM_001012509.4:c.585C>T	NP_001012527.2:p.Tyr195=
NM_001297417.3:c.563-9490C>T	NP_001284346.2:n.563-9490C>T
NM_001297417.4:c.563-9490C>T	NP_001284346.2:n.563-9490C>T