Canonical Allele Identifier: CA3225729

Gene: SLC45A2

Linked Data

• dbSNP Id: rs777558317
• ExAC: 5:33964058 C / G
• gnomAD v2: 5-33964058-C-G
• MyVariant Identifiers: chr5:g.33964058C>G (hg19) ; chr5:g.33963953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963953C>G , CM000667.2:g.33963953C>G	GRCh38
NC_000005.9:g.33964058C>G , CM000667.1:g.33964058C>G	GRCh37
NC_000005.8:g.33999815C>G	NCBI36
NG_011691.2:g.25723G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.626G>C MANE Select	ENSP00000296589.4:p.Arg209Thr
ENST00000296589.8:c.626G>C	ENSP00000296589.4:p.Arg209Thr
ENST00000382102.7:c.626G>C	ENSP00000371534.3:p.Arg209Thr
ENST00000505056.1:n.428G>C
ENST00000509381.1:c.563-9449G>C	ENSP00000421100.1:n.563-9449G>C
ENST00000510600.1:c.101G>C	ENSP00000424010.1:p.Arg34Thr
NM_001012509.3:c.626G>C	NP_001012527.1:p.Arg209Thr
NM_001297417.2:c.563-9449G>C	NP_001284346.2:n.563-9449G>C
NM_016180.4:c.626G>C	NP_057264.3:p.Arg209Thr
XM_011514051.1:c.224G>C	XP_011512353.1:p.Arg75Thr
XM_011514052.1:c.626G>C	XP_011512354.1:p.Arg209Thr
XR_925620.1:n.1443G>C
NM_016180.5:c.626G>C MANE Select	NP_057264.4:p.Arg209Thr
NM_001012509.4:c.626G>C	NP_001012527.2:p.Arg209Thr
NM_001297417.3:c.563-9449G>C	NP_001284346.2:n.563-9449G>C
NM_001297417.4:c.563-9449G>C	NP_001284346.2:n.563-9449G>C