Canonical Allele Identifier: CA1538196136

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963902A= , CM000667.2:g.33963902A=	GRCh38
NC_000005.9:g.33964007A= , CM000667.1:g.33964007A=	GRCh37
NC_000005.8:g.33999764A=	NCBI36
NG_011691.2:g.25774T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.677T= MANE Select	ENSP00000296589.4:p.Leu226=
ENST00000296589.8:c.677T=	ENSP00000296589.4:p.Leu226=
ENST00000382102.7:c.677T=	ENSP00000371534.3:p.Leu226=
ENST00000505056.1:n.479T=
ENST00000509381.1:c.563-9398T=	ENSP00000421100.1:n.563-9398T=
ENST00000510600.1:c.152T=	ENSP00000424010.1:p.Leu51=
NM_001012509.3:c.677T=	NP_001012527.1:p.Leu226=
NM_001297417.2:c.563-9398T=	NP_001284346.2:n.563-9398T=
NM_016180.4:c.677T=	NP_057264.3:p.Leu226=
XM_011514051.1:c.275T=	XP_011512353.1:p.Leu92=
XM_011514052.1:c.677T=	XP_011512354.1:p.Leu226=
XR_925620.1:n.1494T=
NM_016180.5:c.677T= MANE Select	NP_057264.4:p.Leu226=
NM_001012509.4:c.677T=	NP_001012527.2:p.Leu226=
NM_001297417.3:c.563-9398T=	NP_001284346.2:n.563-9398T=
NM_001297417.4:c.563-9398T=	NP_001284346.2:n.563-9398T=