Canonical Allele Identifier: CA359394396

Gene: SLC45A2

Linked Data

• dbSNP Id: rs372693322
• gnomAD v3: 5-33964010-C-T
• gnomAD v4: 5-33964010-C-T
• MyVariant Identifiers: chr5:g.33964115C>T (hg19) ; chr5:g.33964010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964010C>T , CM000667.2:g.33964010C>T	GRCh38
NC_000005.9:g.33964115C>T , CM000667.1:g.33964115C>T	GRCh37
NC_000005.8:g.33999872C>T	NCBI36
NG_011691.2:g.25666G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.569G>A MANE Select	ENSP00000296589.4:p.Gly190Glu
ENST00000296589.8:c.569G>A	ENSP00000296589.4:p.Gly190Glu
ENST00000382102.7:c.569G>A	ENSP00000371534.3:p.Gly190Glu
ENST00000505056.1:n.371G>A
ENST00000509381.1:c.563-9506G>A	ENSP00000421100.1:n.563-9506G>A
ENST00000510600.1:c.44G>A	ENSP00000424010.1:p.Gly15Glu
NM_001012509.3:c.569G>A	NP_001012527.1:p.Gly190Glu
NM_001297417.2:c.563-9506G>A	NP_001284346.2:n.563-9506G>A
NM_016180.4:c.569G>A	NP_057264.3:p.Gly190Glu
XM_011514051.1:c.167G>A	XP_011512353.1:p.Gly56Glu
XM_011514052.1:c.569G>A	XP_011512354.1:p.Gly190Glu
XR_925620.1:n.1386G>A
NM_016180.5:c.569G>A MANE Select	NP_057264.4:p.Gly190Glu
NM_001012509.4:c.569G>A	NP_001012527.2:p.Gly190Glu
NM_001297417.3:c.563-9506G>A	NP_001284346.2:n.563-9506G>A
NM_001297417.4:c.563-9506G>A	NP_001284346.2:n.563-9506G>A