Canonical Allele Identifier: CA359389798

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951698C>G (hg19) ; chr5:g.33951593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951593C>G , CM000667.2:g.33951593C>G	GRCh38
NC_000005.9:g.33951698C>G , CM000667.1:g.33951698C>G	GRCh37
NC_000005.8:g.33987455C>G	NCBI36
NG_011691.2:g.38083G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1117G>C MANE Select	ENSP00000296589.4:p.Gly373Arg
ENST00000296589.8:c.1117G>C	ENSP00000296589.4:p.Gly373Arg
ENST00000382102.7:c.1117G>C	ENSP00000371534.3:p.Gly373Arg
ENST00000509381.1:c.*59G>C	ENSP00000421100.1:n.*59G>C
ENST00000510600.1:c.592G>C	ENSP00000424010.1:p.Gly198Arg
NM_001012509.3:c.1117G>C	NP_001012527.1:p.Gly373Arg
NM_001297417.2:c.*59G>C	NP_001284346.2:n.*59G>C
NM_016180.4:c.1117G>C	NP_057264.3:p.Gly373Arg
XM_011514051.1:c.715G>C	XP_011512353.1:p.Gly239Arg
XR_925620.1:n.1934G>C
NM_016180.5:c.1117G>C MANE Select	NP_057264.4:p.Gly373Arg
NM_001012509.4:c.1117G>C	NP_001012527.2:p.Gly373Arg
NM_001297417.3:c.*59G>C	NP_001284346.2:n.*59G>C
NM_001297417.4:c.*59G>C	NP_001284346.2:n.*59G>C