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WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.50625024C>T , CM000684.2:g.50625024C>T
GRCh38
NC_000022.10:g.51063452C>T , CM000684.1:g.51063452C>T
GRCh37
NC_000022.9:g.49410318C>T
NCBI36
NG_009260.2:g.8156G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000216124.10:c.*121G>A
MANE Select
ENSP00000216124.5:n.*121G>A
ENST00000216124.9:c.*121G>A
ENSP00000216124.5:n.*121G>A
ENST00000356098.9:c.*121G>A
ENSP00000348406.5:n.*121G>A
ENST00000608497.1:c.180+339G>A
NM_000487.5:c.*121G>A
NP_000478.3:n.*121G>A
NM_001085425.2:c.*121G>A
NP_001078894.2:n.*121G>A
NM_001085426.2:c.*121G>A
NP_001078895.2:n.*121G>A
NM_001085427.2:c.*121G>A
NP_001078896.2:n.*121G>A
NM_001085428.2:c.*121G>A
NP_001078897.1:n.*121G>A
XM_011530690.1:c.*121G>A
XP_011528992.1:n.*121G>A
XM_011530691.1:c.*384G>A
XP_011528993.1:n.*384G>A
NM_001362782.1:c.*121G>A
NP_001349711.1:n.*121G>A
XM_011530691.3:c.*384G>A
XP_011528993.1:n.*384G>A
XM_017028800.1:c.*121G>A
XP_016884289.1:n.*121G>A
XM_024452241.1:c.*384G>A
XP_024308009.1:n.*384G>A
NM_000487.6:c.*121G>A
MANE Select
NP_000478.3:n.*121G>A
NM_001085425.3:c.*121G>A
NP_001078894.2:n.*121G>A
NM_001085426.3:c.*121G>A
NP_001078895.2:n.*121G>A
NM_001085427.3:c.*121G>A
NP_001078896.2:n.*121G>A
NM_001085428.3:c.*121G>A
NP_001078897.1:n.*121G>A
NM_001362782.2:c.*121G>A
NP_001349711.1:n.*121G>A