Canonical Allele Identifier: CA116890496

Gene: SLC45A2

Linked Data

• dbSNP Id: rs768917343
• MyVariant Identifiers: chr5:g.33964000C>T (hg19) ; chr5:g.33963895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963895C>T , CM000667.2:g.33963895C>T	GRCh38
NC_000005.9:g.33964000C>T , CM000667.1:g.33964000C>T	GRCh37
NC_000005.8:g.33999757C>T	NCBI36
NG_011691.2:g.25781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.684G>A MANE Select	ENSP00000296589.4:p.Leu228=
ENST00000296589.8:c.684G>A	ENSP00000296589.4:p.Leu228=
ENST00000382102.7:c.684G>A	ENSP00000371534.3:p.Leu228=
ENST00000505056.1:n.486G>A
ENST00000509381.1:c.563-9391G>A	ENSP00000421100.1:n.563-9391G>A
ENST00000510600.1:c.159G>A	ENSP00000424010.1:p.Leu53=
NM_001012509.3:c.684G>A	NP_001012527.1:p.Leu228=
NM_001297417.2:c.563-9391G>A	NP_001284346.2:n.563-9391G>A
NM_016180.4:c.684G>A	NP_057264.3:p.Leu228=
XM_011514051.1:c.282G>A	XP_011512353.1:p.Leu94=
XM_011514052.1:c.684G>A	XP_011512354.1:p.Leu228=
XR_925620.1:n.1501G>A
NM_016180.5:c.684G>A MANE Select	NP_057264.4:p.Leu228=
NM_001012509.4:c.684G>A	NP_001012527.2:p.Leu228=
NM_001297417.3:c.563-9391G>A	NP_001284346.2:n.563-9391G>A
NM_001297417.4:c.563-9391G>A	NP_001284346.2:n.563-9391G>A