Canonical Allele Identifier: CA3225599

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 904628
• ClinVar RCV Id: RCV001152649 ; RCV002491442 ; RCV002557292
• dbSNP Id: rs372465070
• ExAC: 5:33951773 G / A
• gnomAD v2: 5-33951773-G-A
• gnomAD v3: 5-33951668-G-A
• gnomAD v4: 5-33951668-G-A
• MyVariant Identifiers: chr5:g.33951773G>A (hg19) ; chr5:g.33951668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951668G>A , CM000667.2:g.33951668G>A	GRCh38
NC_000005.9:g.33951773G>A , CM000667.1:g.33951773G>A	GRCh37
NC_000005.8:g.33987530G>A	NCBI36
NG_011691.2:g.38008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1042C>T MANE Select	ENSP00000296589.4:p.Arg348Cys
ENST00000296589.8:c.1042C>T	ENSP00000296589.4:p.Arg348Cys
ENST00000382102.7:c.1042C>T	ENSP00000371534.3:p.Arg348Cys
ENST00000509381.1:c.716C>T	ENSP00000421100.1:p.Pro239Leu
ENST00000510600.1:c.517C>T	ENSP00000424010.1:p.Arg173Cys
NM_001012509.3:c.1042C>T	NP_001012527.1:p.Arg348Cys
NM_001297417.2:c.716C>T	NP_001284346.2:p.Pro239Leu
NM_016180.4:c.1042C>T	NP_057264.3:p.Arg348Cys
XM_011514051.1:c.640C>T	XP_011512353.1:p.Arg214Cys
XR_925620.1:n.1859C>T
NM_016180.5:c.1042C>T MANE Select	NP_057264.4:p.Arg348Cys
NM_001012509.4:c.1042C>T	NP_001012527.2:p.Arg348Cys
NM_001297417.3:c.716C>T	NP_001284346.2:p.Pro239Leu
NM_001297417.4:c.716C>T	NP_001284346.2:p.Pro239Leu