Canonical Allele Identifier: CA359389909

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1220238237
• MyVariant Identifiers: chr5:g.33951727T>C (hg19) ; chr5:g.33951622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951622T>C , CM000667.2:g.33951622T>C	GRCh38
NC_000005.9:g.33951727T>C , CM000667.1:g.33951727T>C	GRCh37
NC_000005.8:g.33987484T>C	NCBI36
NG_011691.2:g.38054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1088A>G MANE Select	ENSP00000296589.4:p.Tyr363Cys
ENST00000296589.8:c.1088A>G	ENSP00000296589.4:p.Tyr363Cys
ENST00000382102.7:c.1088A>G	ENSP00000371534.3:p.Tyr363Cys
ENST00000509381.1:c.*30A>G	ENSP00000421100.1:n.*30A>G
ENST00000510600.1:c.563A>G	ENSP00000424010.1:p.Tyr188Cys
NM_001012509.3:c.1088A>G	NP_001012527.1:p.Tyr363Cys
NM_001297417.2:c.*30A>G	NP_001284346.2:n.*30A>G
NM_016180.4:c.1088A>G	NP_057264.3:p.Tyr363Cys
XM_011514051.1:c.686A>G	XP_011512353.1:p.Tyr229Cys
XR_925620.1:n.1905A>G
NM_016180.5:c.1088A>G MANE Select	NP_057264.4:p.Tyr363Cys
NM_001012509.4:c.1088A>G	NP_001012527.2:p.Tyr363Cys
NM_001297417.3:c.*30A>G	NP_001284346.2:n.*30A>G
NM_001297417.4:c.*30A>G	NP_001284346.2:n.*30A>G