Canonical Allele Identifier: CA2673477249
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33963677-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963677T>G , CM000667.2:g.33963677T>G GRCh38
NC_000005.9:g.33963782T>G , CM000667.1:g.33963782T>G GRCh37
NC_000005.8:g.33999539T>G NCBI36
NG_011691.2:g.25999A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.888+14A>C MANE Select ENSP00000296589.4:n.888+14A>C
ENST00000296589.8:c.888+14A>C ENSP00000296589.4:n.888+14A>C
ENST00000382102.7:c.888+14A>C ENSP00000371534.3:n.888+14A>C
ENST00000505056.1:n.704A>C
ENST00000509381.1:c.563-9173A>C ENSP00000421100.1:n.563-9173A>C
ENST00000510600.1:c.363+14A>C ENSP00000424010.1:n.363+14A>C
NM_001012509.3:c.888+14A>C NP_001012527.1:n.888+14A>C
NM_001297417.2:c.563-9173A>C NP_001284346.2:n.563-9173A>C
NM_016180.4:c.888+14A>C NP_057264.3:n.888+14A>C
XM_011514051.1:c.486+14A>C XP_011512353.1:n.486+14A>C
XM_011514052.1:c.888+14A>C XP_011512354.1:n.888+14A>C
XR_925620.1:n.1705+14A>C
NM_016180.5:c.888+14A>C MANE Select NP_057264.4:n.888+14A>C
NM_001012509.4:c.888+14A>C NP_001012527.2:n.888+14A>C
NM_001297417.3:c.563-9173A>C NP_001284346.2:n.563-9173A>C
NM_001297417.4:c.563-9173A>C NP_001284346.2:n.563-9173A>C