Canonical Allele Identifier: CA359393790

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33963959A>T (hg19) ; chr5:g.33963854A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963854A>T , CM000667.2:g.33963854A>T	GRCh38
NC_000005.9:g.33963959A>T , CM000667.1:g.33963959A>T	GRCh37
NC_000005.8:g.33999716A>T	NCBI36
NG_011691.2:g.25822T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.725T>A MANE Select	ENSP00000296589.4:p.Leu242His
ENST00000296589.8:c.725T>A	ENSP00000296589.4:p.Leu242His
ENST00000382102.7:c.725T>A	ENSP00000371534.3:p.Leu242His
ENST00000505056.1:n.527T>A
ENST00000509381.1:c.563-9350T>A	ENSP00000421100.1:n.563-9350T>A
ENST00000510600.1:c.200T>A	ENSP00000424010.1:p.Leu67His
NM_001012509.3:c.725T>A	NP_001012527.1:p.Leu242His
NM_001297417.2:c.563-9350T>A	NP_001284346.2:n.563-9350T>A
NM_016180.4:c.725T>A	NP_057264.3:p.Leu242His
XM_011514051.1:c.323T>A	XP_011512353.1:p.Leu108His
XM_011514052.1:c.725T>A	XP_011512354.1:p.Leu242His
XR_925620.1:n.1542T>A
NM_016180.5:c.725T>A MANE Select	NP_057264.4:p.Leu242His
NM_001012509.4:c.725T>A	NP_001012527.2:p.Leu242His
NM_001297417.3:c.563-9350T>A	NP_001284346.2:n.563-9350T>A
NM_001297417.4:c.563-9350T>A	NP_001284346.2:n.563-9350T>A