Canonical Allele Identifier: CA359397690

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1477221
• ClinVar RCV Id: RCV001998312
• dbSNP Id: rs1314784958
• gnomAD v4: 5-33984426-G-A
• MyVariant Identifiers: chr5:g.33984531G>A (hg19) ; chr5:g.33984426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984426G>A , CM000667.2:g.33984426G>A	GRCh38
NC_000005.9:g.33984531G>A , CM000667.1:g.33984531G>A	GRCh37
NC_000005.8:g.34020288G>A	NCBI36
NG_011691.2:g.5250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.158C>T MANE Select	ENSP00000296589.4:p.Ala53Val
ENST00000296589.8:c.158C>T	ENSP00000296589.4:p.Ala53Val
ENST00000382102.7:c.158C>T	ENSP00000371534.3:p.Ala53Val
ENST00000505056.1:n.137C>T
ENST00000509381.1:c.158C>T	ENSP00000421100.1:p.Ala53Val
NM_001012509.3:c.158C>T	NP_001012527.1:p.Ala53Val
NM_001297417.2:c.158C>T	NP_001284346.2:p.Ala53Val
NM_016180.4:c.158C>T	NP_057264.3:p.Ala53Val
XM_011514052.1:c.158C>T	XP_011512354.1:p.Ala53Val
XR_925620.1:n.719C>T
NM_016180.5:c.158C>T MANE Select	NP_057264.4:p.Ala53Val
NM_001012509.4:c.158C>T	NP_001012527.2:p.Ala53Val
NM_001297417.3:c.158C>T	NP_001284346.2:p.Ala53Val
NM_001297417.4:c.158C>T	NP_001284346.2:p.Ala53Val