Canonical Allele Identifier: CA2569469401
Gene: SLC45A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205669010C>A , CM000663.2:g.205669010C>A GRCh38
NC_000001.10:g.205638138C>A , CM000663.1:g.205638138C>A GRCh37
NC_000001.9:g.203904761C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367145.4:c.-230-4124G>T MANE Select ENSP00000356113.3:n.-230-4124G>T
ENST00000367145.3:c.-230-4124G>T ENSP00000356113.3:n.-230-4124G>T
NM_033102.2:c.-230-4124G>T NP_149093.1:n.-230-4124G>T
XM_005245556.2:c.-231+685G>T XP_005245613.1:n.-231+685G>T
XM_005245557.3:c.-230-4124G>T XP_005245614.1:n.-230-4124G>T
XM_005245559.3:c.-231+2940G>T XP_005245616.1:n.-231+2940G>T
XM_005245560.2:c.-230-4124G>T XP_005245617.1:n.-230-4124G>T
NM_033102.3:c.-230-4124G>T MANE Select NP_149093.1:n.-230-4124G>T
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