Canonical Allele Identifier: CA359397729

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1753184180
• gnomAD v4: 5-33984443-G-T
• COSMIC: COSM1067409 ; COSM4864925
• MyVariant Identifiers: chr5:g.33984548G>T (hg19) ; chr5:g.33984443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984443G>T , CM000667.2:g.33984443G>T	GRCh38
NC_000005.9:g.33984548G>T , CM000667.1:g.33984548G>T	GRCh37
NC_000005.8:g.34020305G>T	NCBI36
NG_011691.2:g.5233C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.141C>A MANE Select	ENSP00000296589.4:p.Phe47Leu
ENST00000296589.8:c.141C>A	ENSP00000296589.4:p.Phe47Leu
ENST00000382102.7:c.141C>A	ENSP00000371534.3:p.Phe47Leu
ENST00000505056.1:n.120C>A
ENST00000509381.1:c.141C>A	ENSP00000421100.1:p.Phe47Leu
NM_001012509.3:c.141C>A	NP_001012527.1:p.Phe47Leu
NM_001297417.2:c.141C>A	NP_001284346.2:p.Phe47Leu
NM_016180.4:c.141C>A	NP_057264.3:p.Phe47Leu
XM_011514052.1:c.141C>A	XP_011512354.1:p.Phe47Leu
XR_925620.1:n.702C>A
NM_016180.5:c.141C>A MANE Select	NP_057264.4:p.Phe47Leu
NM_001012509.4:c.141C>A	NP_001012527.2:p.Phe47Leu
NM_001297417.3:c.141C>A	NP_001284346.2:p.Phe47Leu
NM_001297417.4:c.141C>A	NP_001284346.2:p.Phe47Leu