Canonical Allele Identifier: CA359390219

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951782T>C (hg19) ; chr5:g.33951677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951677T>C , CM000667.2:g.33951677T>C	GRCh38
NC_000005.9:g.33951782T>C , CM000667.1:g.33951782T>C	GRCh37
NC_000005.8:g.33987539T>C	NCBI36
NG_011691.2:g.37999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1033A>G MANE Select	ENSP00000296589.4:p.Ile345Val
ENST00000296589.8:c.1033A>G	ENSP00000296589.4:p.Ile345Val
ENST00000382102.7:c.1033A>G	ENSP00000371534.3:p.Ile345Val
ENST00000509381.1:c.707A>G	ENSP00000421100.1:p.Asp236Gly
ENST00000510600.1:c.508A>G	ENSP00000424010.1:p.Ile170Val
NM_001012509.3:c.1033A>G	NP_001012527.1:p.Ile345Val
NM_001297417.2:c.707A>G	NP_001284346.2:p.Asp236Gly
NM_016180.4:c.1033A>G	NP_057264.3:p.Ile345Val
XM_011514051.1:c.631A>G	XP_011512353.1:p.Ile211Val
XR_925620.1:n.1850A>G
NM_016180.5:c.1033A>G MANE Select	NP_057264.4:p.Ile345Val
NM_001012509.4:c.1033A>G	NP_001012527.2:p.Ile345Val
NM_001297417.3:c.707A>G	NP_001284346.2:p.Asp236Gly
NM_001297417.4:c.707A>G	NP_001284346.2:p.Asp236Gly