Canonical Allele Identifier: CA116901

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951693C>C (hg19) ; chr5:g.33951588C>C (hg38)
• PubMed: PMID:15714523 ; PMID:17044855 ; PMID:17999355 ; PMID:18563784 ; PMID:18683857 ; PMID:19578363

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951588C= , CM000667.2:g.33951588C=	GRCh38
NC_000005.9:g.33951693C= , CM000667.1:g.33951693C=	GRCh37
NC_000005.8:g.33987450C=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1122G= MANE Select	ENSP00000296589.4:p.Leu374=
ENST00000296589.8:c.1122G=	ENSP00000296589.4:p.Leu374=
ENST00000382102.7:c.1122G=	ENSP00000371534.3:p.Leu374=
ENST00000509381.1:c.*64G=	ENSP00000421100.1:n.*64G=
ENST00000510600.1:c.597G=	ENSP00000424010.1:p.Leu199=
XM_011514051.1:c.720G=	XP_011512353.1:p.Leu240=
XR_925620.1:n.1939G=
NM_016180.5:c.1122G= MANE Select	NP_057264.4:p.Leu374=
NM_001012509.4:c.1122G=	NP_001012527.2:p.Leu374=
NM_001297417.3:c.*64G=	NP_001284346.2:n.*64G=
NM_001297417.4:c.*64G=	NP_001284346.2:n.*64G=