Canonical Allele Identifier: CA810009546
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1472452727
gnomAD v3: 5-33955447-G-A
gnomAD v4: 5-33955447-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33955447G>A , CM000667.2:g.33955447G>A GRCh38
NC_000005.9:g.33955552G>A , CM000667.1:g.33955552G>A GRCh37
NC_000005.8:g.33991309G>A NCBI36
NG_011691.2:g.34229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.889-943C>T MANE Select ENSP00000296589.4:n.889-943C>T
ENST00000296589.8:c.889-943C>T ENSP00000296589.4:n.889-943C>T
ENST00000382102.7:c.889-943C>T ENSP00000371534.3:n.889-943C>T
ENST00000509381.1:c.563-943C>T ENSP00000421100.1:n.563-943C>T
ENST00000510600.1:c.364-943C>T ENSP00000424010.1:n.364-943C>T
NM_001012509.3:c.889-943C>T NP_001012527.1:n.889-943C>T
NM_001297417.2:c.563-943C>T NP_001284346.2:n.563-943C>T
NM_016180.4:c.889-943C>T NP_057264.3:n.889-943C>T
XM_011514051.1:c.487-943C>T XP_011512353.1:n.487-943C>T
XR_925620.1:n.1706-943C>T
NM_016180.5:c.889-943C>T MANE Select NP_057264.4:n.889-943C>T
NM_001012509.4:c.889-943C>T NP_001012527.2:n.889-943C>T
NM_001297417.3:c.563-943C>T NP_001284346.2:n.563-943C>T
NM_001297417.4:c.563-943C>T NP_001284346.2:n.563-943C>T