Canonical Allele Identifier: CA116903334

Gene: SLC45A2

Linked Data

• dbSNP Id: rs946464307
• MyVariant Identifiers: chr5:g.33984318G>T (hg19) ; chr5:g.33984213G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984213G>T , CM000667.2:g.33984213G>T	GRCh38
NC_000005.9:g.33984318G>T , CM000667.1:g.33984318G>T	GRCh37
NC_000005.8:g.34020075G>T	NCBI36
NG_011691.2:g.5463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.371C>A MANE Select	ENSP00000296589.4:p.Ala124Asp
ENST00000296589.8:c.371C>A	ENSP00000296589.4:p.Ala124Asp
ENST00000382102.7:c.371C>A	ENSP00000371534.3:p.Ala124Asp
ENST00000505056.1:n.350C>A
ENST00000509381.1:c.371C>A	ENSP00000421100.1:p.Ala124Asp
ENST00000510600.1:c.23C>A	ENSP00000424010.1:p.Ala8Asp
NM_001012509.3:c.371C>A	NP_001012527.1:p.Ala124Asp
NM_001297417.2:c.371C>A	NP_001284346.2:p.Ala124Asp
NM_016180.4:c.371C>A	NP_057264.3:p.Ala124Asp
XM_011514052.1:c.371C>A	XP_011512354.1:p.Ala124Asp
XR_925620.1:n.932C>A
NM_016180.5:c.371C>A MANE Select	NP_057264.4:p.Ala124Asp
NM_001012509.4:c.371C>A	NP_001012527.2:p.Ala124Asp
NM_001297417.3:c.371C>A	NP_001284346.2:p.Ala124Asp
NM_001297417.4:c.371C>A	NP_001284346.2:p.Ala124Asp