Canonical Allele Identifier: CA2673477242
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33963665-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963665G>T , CM000667.2:g.33963665G>T GRCh38
NC_000005.9:g.33963770G>T , CM000667.1:g.33963770G>T GRCh37
NC_000005.8:g.33999527G>T NCBI36
NG_011691.2:g.26011C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.888+26C>A MANE Select ENSP00000296589.4:n.888+26C>A
ENST00000296589.8:c.888+26C>A ENSP00000296589.4:n.888+26C>A
ENST00000382102.7:c.888+26C>A ENSP00000371534.3:n.888+26C>A
ENST00000505056.1:n.716C>A
ENST00000509381.1:c.563-9161C>A ENSP00000421100.1:n.563-9161C>A
ENST00000510600.1:c.363+26C>A ENSP00000424010.1:n.363+26C>A
NM_001012509.3:c.888+26C>A NP_001012527.1:n.888+26C>A
NM_001297417.2:c.563-9161C>A NP_001284346.2:n.563-9161C>A
NM_016180.4:c.888+26C>A NP_057264.3:n.888+26C>A
XM_011514051.1:c.486+26C>A XP_011512353.1:n.486+26C>A
XM_011514052.1:c.888+26C>A XP_011512354.1:n.888+26C>A
XR_925620.1:n.1705+26C>A
NM_016180.5:c.888+26C>A MANE Select NP_057264.4:n.888+26C>A
NM_001012509.4:c.888+26C>A NP_001012527.2:n.888+26C>A
NM_001297417.3:c.563-9161C>A NP_001284346.2:n.563-9161C>A
NM_001297417.4:c.563-9161C>A NP_001284346.2:n.563-9161C>A