Canonical Allele Identifier: CA2606941904
Gene: SLC45A3 HGNC NCBI

Linked Data

dbSNP Id: rs2102406862
gnomAD v3: 1-205669246-C-T
gnomAD v4: 1-205669246-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205669246C>T , CM000663.2:g.205669246C>T GRCh38
NC_000001.10:g.205638374C>T , CM000663.1:g.205638374C>T GRCh37
NC_000001.9:g.203904997C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367145.4:c.-230-4360G>A MANE Select ENSP00000356113.3:n.-230-4360G>A
ENST00000367145.3:c.-230-4360G>A ENSP00000356113.3:n.-230-4360G>A
NM_033102.2:c.-230-4360G>A NP_149093.1:n.-230-4360G>A
XM_005245556.2:c.-231+449G>A XP_005245613.1:n.-231+449G>A
XM_005245557.3:c.-230-4360G>A XP_005245614.1:n.-230-4360G>A
XM_005245559.3:c.-231+2704G>A XP_005245616.1:n.-231+2704G>A
XM_005245560.2:c.-230-4360G>A XP_005245617.1:n.-230-4360G>A
NM_033102.3:c.-230-4360G>A MANE Select NP_149093.1:n.-230-4360G>A
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