Canonical Allele Identifier: CA359393211

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2703404
• ClinVar RCV Id: RCV003579300
• MyVariant Identifiers: chr5:g.33963861T>A (hg19) ; chr5:g.33963756T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963756T>A , CM000667.2:g.33963756T>A	GRCh38
NC_000005.9:g.33963861T>A , CM000667.1:g.33963861T>A	GRCh37
NC_000005.8:g.33999618T>A	NCBI36
NG_011691.2:g.25920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.823A>T MANE Select	ENSP00000296589.4:p.Lys275Ter
ENST00000296589.8:c.823A>T	ENSP00000296589.4:p.Lys275Ter
ENST00000382102.7:c.823A>T	ENSP00000371534.3:p.Lys275Ter
ENST00000505056.1:n.625A>T
ENST00000509381.1:c.563-9252A>T	ENSP00000421100.1:n.563-9252A>T
ENST00000510600.1:c.298A>T	ENSP00000424010.1:p.Lys100Ter
NM_001012509.3:c.823A>T	NP_001012527.1:p.Lys275Ter
NM_001297417.2:c.563-9252A>T	NP_001284346.2:n.563-9252A>T
NM_016180.4:c.823A>T	NP_057264.3:p.Lys275Ter
XM_011514051.1:c.421A>T	XP_011512353.1:p.Lys141Ter
XM_011514052.1:c.823A>T	XP_011512354.1:p.Lys275Ter
XR_925620.1:n.1640A>T
NM_016180.5:c.823A>T MANE Select	NP_057264.4:p.Lys275Ter
NM_001012509.4:c.823A>T	NP_001012527.2:p.Lys275Ter
NM_001297417.3:c.563-9252A>T	NP_001284346.2:n.563-9252A>T
NM_001297417.4:c.563-9252A>T	NP_001284346.2:n.563-9252A>T