Canonical Allele Identifier: CA1011511464
Gene: SLC45A3 HGNC NCBI

Linked Data

dbSNP Id: rs1671162543
gnomAD v3: 1-205669009-A-G
gnomAD v4: 1-205669009-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205669009A>G , CM000663.2:g.205669009A>G GRCh38
NC_000001.10:g.205638137A>G , CM000663.1:g.205638137A>G GRCh37
NC_000001.9:g.203904760A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367145.4:c.-230-4123T>C MANE Select ENSP00000356113.3:n.-230-4123T>C
ENST00000367145.3:c.-230-4123T>C ENSP00000356113.3:n.-230-4123T>C
NM_033102.2:c.-230-4123T>C NP_149093.1:n.-230-4123T>C
XM_005245556.2:c.-231+686T>C XP_005245613.1:n.-231+686T>C
XM_005245557.3:c.-230-4123T>C XP_005245614.1:n.-230-4123T>C
XM_005245559.3:c.-231+2941T>C XP_005245616.1:n.-231+2941T>C
XM_005245560.2:c.-230-4123T>C XP_005245617.1:n.-230-4123T>C
NM_033102.3:c.-230-4123T>C MANE Select NP_149093.1:n.-230-4123T>C
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