Canonical Allele Identifier: CA2739878535

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951506T>A , CM000667.2:g.33951506T>A	GRCh38
NC_000005.9:g.33951611T>A , CM000667.1:g.33951611T>A	GRCh37
NC_000005.8:g.33987368T>A	NCBI36
NG_011691.2:g.38170A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1156+48A>T MANE Select	ENSP00000296589.4:n.1156+48A>T
ENST00000296589.8:c.1156+48A>T	ENSP00000296589.4:n.1156+48A>T
ENST00000382102.7:c.1156+48A>T	ENSP00000371534.3:n.1156+48A>T
ENST00000509381.1:c.*146A>T	ENSP00000421100.1:n.*146A>T
ENST00000510600.1:c.631+48A>T	ENSP00000424010.1:n.631+48A>T
NM_001012509.3:c.1156+48A>T	NP_001012527.1:n.1156+48A>T
NM_001297417.2:c.*146A>T	NP_001284346.2:n.*146A>T
NM_016180.4:c.1156+48A>T	NP_057264.3:n.1156+48A>T
XM_011514051.1:c.754+48A>T	XP_011512353.1:n.754+48A>T
XR_925620.1:n.1973+48A>T
NM_016180.5:c.1156+48A>T MANE Select	NP_057264.4:n.1156+48A>T
NM_001012509.4:c.1156+48A>T	NP_001012527.2:n.1156+48A>T
NM_001297417.3:c.*146A>T	NP_001284346.2:n.*146A>T
NM_001297417.4:c.*146A>T	NP_001284346.2:n.*146A>T