Canonical Allele Identifier: CA2747466615
Gene: SLC45A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205669000C>T , CM000663.2:g.205669000C>T GRCh38
NC_000001.10:g.205638128C>T , CM000663.1:g.205638128C>T GRCh37
NC_000001.9:g.203904751C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367145.4:c.-230-4114G>A MANE Select ENSP00000356113.3:n.-230-4114G>A
ENST00000367145.3:c.-230-4114G>A ENSP00000356113.3:n.-230-4114G>A
NM_033102.2:c.-230-4114G>A NP_149093.1:n.-230-4114G>A
XM_005245556.2:c.-231+695G>A XP_005245613.1:n.-231+695G>A
XM_005245557.3:c.-230-4114G>A XP_005245614.1:n.-230-4114G>A
XM_005245559.3:c.-231+2950G>A XP_005245616.1:n.-231+2950G>A
XM_005245560.2:c.-230-4114G>A XP_005245617.1:n.-230-4114G>A
NM_033102.3:c.-230-4114G>A MANE Select NP_149093.1:n.-230-4114G>A
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