Canonical Allele Identifier: CA359394161

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1752525376
• gnomAD v3: 5-33963937-T-G
• gnomAD v4: 5-33963937-T-G
• MyVariant Identifiers: chr5:g.33964042T>G (hg19) ; chr5:g.33963937T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963937T>G , CM000667.2:g.33963937T>G	GRCh38
NC_000005.9:g.33964042T>G , CM000667.1:g.33964042T>G	GRCh37
NC_000005.8:g.33999799T>G	NCBI36
NG_011691.2:g.25739A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.642A>C MANE Select	ENSP00000296589.4:p.Glu214Asp
ENST00000296589.8:c.642A>C	ENSP00000296589.4:p.Glu214Asp
ENST00000382102.7:c.642A>C	ENSP00000371534.3:p.Glu214Asp
ENST00000505056.1:n.444A>C
ENST00000509381.1:c.563-9433A>C	ENSP00000421100.1:n.563-9433A>C
ENST00000510600.1:c.117A>C	ENSP00000424010.1:p.Glu39Asp
NM_001012509.3:c.642A>C	NP_001012527.1:p.Glu214Asp
NM_001297417.2:c.563-9433A>C	NP_001284346.2:n.563-9433A>C
NM_016180.4:c.642A>C	NP_057264.3:p.Glu214Asp
XM_011514051.1:c.240A>C	XP_011512353.1:p.Glu80Asp
XM_011514052.1:c.642A>C	XP_011512354.1:p.Glu214Asp
XR_925620.1:n.1459A>C
NM_016180.5:c.642A>C MANE Select	NP_057264.4:p.Glu214Asp
NM_001012509.4:c.642A>C	NP_001012527.2:p.Glu214Asp
NM_001297417.3:c.563-9433A>C	NP_001284346.2:n.563-9433A>C
NM_001297417.4:c.563-9433A>C	NP_001284346.2:n.563-9433A>C