Canonical Allele Identifier: CA359397345

Gene: SLC45A2

Linked Data

• dbSNP Id: rs2112020216
• gnomAD v4: 5-33984252-A-G
• MyVariant Identifiers: chr5:g.33984357A>G (hg19) ; chr5:g.33984252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984252A>G , CM000667.2:g.33984252A>G	GRCh38
NC_000005.9:g.33984357A>G , CM000667.1:g.33984357A>G	GRCh37
NC_000005.8:g.34020114A>G	NCBI36
NG_011691.2:g.5424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.332T>C MANE Select	ENSP00000296589.4:p.Val111Ala
ENST00000296589.8:c.332T>C	ENSP00000296589.4:p.Val111Ala
ENST00000382102.7:c.332T>C	ENSP00000371534.3:p.Val111Ala
ENST00000505056.1:n.311T>C
ENST00000509381.1:c.332T>C	ENSP00000421100.1:p.Val111Ala
NM_001012509.3:c.332T>C	NP_001012527.1:p.Val111Ala
NM_001297417.2:c.332T>C	NP_001284346.2:p.Val111Ala
NM_016180.4:c.332T>C	NP_057264.3:p.Val111Ala
XM_011514052.1:c.332T>C	XP_011512354.1:p.Val111Ala
XR_925620.1:n.893T>C
NM_016180.5:c.332T>C MANE Select	NP_057264.4:p.Val111Ala
NM_001012509.4:c.332T>C	NP_001012527.2:p.Val111Ala
NM_001297417.3:c.332T>C	NP_001284346.2:p.Val111Ala
NM_001297417.4:c.332T>C	NP_001284346.2:p.Val111Ala