Canonical Allele Identifier: CA359390067

Gene: SLC45A2

Linked Data

• COSMIC: COSM3015251 ; COSM4347621
• MyVariant Identifiers: chr5:g.33951762G>T (hg19) ; chr5:g.33951657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951657G>T , CM000667.2:g.33951657G>T	GRCh38
NC_000005.9:g.33951762G>T , CM000667.1:g.33951762G>T	GRCh37
NC_000005.8:g.33987519G>T	NCBI36
NG_011691.2:g.38019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1053C>A MANE Select	ENSP00000296589.4:p.Pro351=
ENST00000296589.8:c.1053C>A	ENSP00000296589.4:p.Pro351=
ENST00000382102.7:c.1053C>A	ENSP00000371534.3:p.Pro351=
ENST00000509381.1:c.727C>A	ENSP00000421100.1:p.Leu243Ile
ENST00000510600.1:c.528C>A	ENSP00000424010.1:p.Pro176=
NM_001012509.3:c.1053C>A	NP_001012527.1:p.Pro351=
NM_001297417.2:c.727C>A	NP_001284346.2:p.Leu243Ile
NM_016180.4:c.1053C>A	NP_057264.3:p.Pro351=
XM_011514051.1:c.651C>A	XP_011512353.1:p.Pro217=
XR_925620.1:n.1870C>A
NM_016180.5:c.1053C>A MANE Select	NP_057264.4:p.Pro351=
NM_001012509.4:c.1053C>A	NP_001012527.2:p.Pro351=
NM_001297417.3:c.727C>A	NP_001284346.2:p.Leu243Ile
NM_001297417.4:c.727C>A	NP_001284346.2:p.Leu243Ile