Canonical Allele Identifier: CA3225744

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2782757
• ClinVar RCV Id: RCV003664167
• dbSNP Id: rs756085786
• ExAC: 5:33964134 A / G
• gnomAD v2: 5-33964134-A-G
• gnomAD v4: 5-33964029-A-G
• MyVariant Identifiers: chr5:g.33964134A>G (hg19) ; chr5:g.33964029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964029A>G , CM000667.2:g.33964029A>G	GRCh38
NC_000005.9:g.33964134A>G , CM000667.1:g.33964134A>G	GRCh37
NC_000005.8:g.33999891A>G	NCBI36
NG_011691.2:g.25647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.563-13T>C MANE Select	ENSP00000296589.4:n.563-13T>C
ENST00000296589.8:c.563-13T>C	ENSP00000296589.4:n.563-13T>C
ENST00000382102.7:c.563-13T>C	ENSP00000371534.3:n.563-13T>C
ENST00000505056.1:n.365-13T>C
ENST00000509381.1:c.563-9525T>C	ENSP00000421100.1:n.563-9525T>C
ENST00000510600.1:c.38-13T>C	ENSP00000424010.1:n.38-13T>C
NM_001012509.3:c.563-13T>C	NP_001012527.1:n.563-13T>C
NM_001297417.2:c.563-9525T>C	NP_001284346.2:n.563-9525T>C
NM_016180.4:c.563-13T>C	NP_057264.3:n.563-13T>C
XM_011514051.1:c.161-13T>C	XP_011512353.1:n.161-13T>C
XM_011514052.1:c.563-13T>C	XP_011512354.1:n.563-13T>C
XR_925620.1:n.1380-13T>C
NM_016180.5:c.563-13T>C MANE Select	NP_057264.4:n.563-13T>C
NM_001012509.4:c.563-13T>C	NP_001012527.2:n.563-13T>C
NM_001297417.3:c.563-9525T>C	NP_001284346.2:n.563-9525T>C
NM_001297417.4:c.563-9525T>C	NP_001284346.2:n.563-9525T>C