Canonical Allele Identifier: CA1074904342

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1752530389
• gnomAD v3: 5-33964054-A-C
• gnomAD v4: 5-33964054-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964054A>C , CM000667.2:g.33964054A>C	GRCh38
NC_000005.9:g.33964159A>C , CM000667.1:g.33964159A>C	GRCh37
NC_000005.8:g.33999916A>C	NCBI36
NG_011691.2:g.25622T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.563-38T>G MANE Select	ENSP00000296589.4:n.563-38T>G
ENST00000296589.8:c.563-38T>G	ENSP00000296589.4:n.563-38T>G
ENST00000382102.7:c.563-38T>G	ENSP00000371534.3:n.563-38T>G
ENST00000505056.1:n.365-38T>G
ENST00000509381.1:c.563-9550T>G	ENSP00000421100.1:n.563-9550T>G
ENST00000510600.1:c.38-38T>G	ENSP00000424010.1:n.38-38T>G
NM_001012509.3:c.563-38T>G	NP_001012527.1:n.563-38T>G
NM_001297417.2:c.563-9550T>G	NP_001284346.2:n.563-9550T>G
NM_016180.4:c.563-38T>G	NP_057264.3:n.563-38T>G
XM_011514051.1:c.161-38T>G	XP_011512353.1:n.161-38T>G
XM_011514052.1:c.563-38T>G	XP_011512354.1:n.563-38T>G
XR_925620.1:n.1380-38T>G
NM_016180.5:c.563-38T>G MANE Select	NP_057264.4:n.563-38T>G
NM_001012509.4:c.563-38T>G	NP_001012527.2:n.563-38T>G
NM_001297417.3:c.563-9550T>G	NP_001284346.2:n.563-9550T>G
NM_001297417.4:c.563-9550T>G	NP_001284346.2:n.563-9550T>G