Canonical Allele Identifier: CA1538211702

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951609G= , CM000667.2:g.33951609G=	GRCh38
NC_000005.9:g.33951714G= , CM000667.1:g.33951714G=	GRCh37
NC_000005.8:g.33987471G=	NCBI36
NG_011691.2:g.38067C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1101C= MANE Select	ENSP00000296589.4:p.Val367=
ENST00000296589.8:c.1101C=	ENSP00000296589.4:p.Val367=
ENST00000382102.7:c.1101C=	ENSP00000371534.3:p.Val367=
ENST00000509381.1:c.*43C=	ENSP00000421100.1:n.*43C=
ENST00000510600.1:c.576C=	ENSP00000424010.1:p.Val192=
NM_001012509.3:c.1101C=	NP_001012527.1:p.Val367=
NM_001297417.2:c.*43C=	NP_001284346.2:n.*43C=
NM_016180.4:c.1101C=	NP_057264.3:p.Val367=
XM_011514051.1:c.699C=	XP_011512353.1:p.Val233=
XR_925620.1:n.1918C=
NM_016180.5:c.1101C= MANE Select	NP_057264.4:p.Val367=
NM_001012509.4:c.1101C=	NP_001012527.2:p.Val367=
NM_001297417.3:c.*43C=	NP_001284346.2:n.*43C=
NM_001297417.4:c.*43C=	NP_001284346.2:n.*43C=