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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_000013.11:g.100089030G>T , CM000675.2:g.100089030G>T
GRCh38
NC_000013.10:g.100741284G>T , CM000675.1:g.100741284G>T
GRCh37
NC_000013.9:g.99539285G>T
NCBI36
NG_008768.1:g.4948G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000376279.7:c.-91G>T
ENSP00000365456.3:n.-91G>T
ENST00000376286.8:c.-91G>T
ENSP00000365463.4:n.-91G>T
NM_000282.3:c.-91G>T
NP_000273.2:n.-91G>T
NM_001127692.2:c.-91G>T
NP_001121164.1:n.-91G>T
NM_001178004.1:c.-91G>T
NP_001171475.1:n.-91G>T
XM_005254059.2:c.-91G>T
XP_005254116.1:n.-91G>T
XM_011521093.1:c.-91G>T
XP_011519395.1:n.-91G>T
XR_931615.1:n.11G>T
XR_931616.1:n.11G>T
NM_001352605.1:c.-91G>T
NP_001339534.1:n.-91G>T
NM_001352606.1:c.-91G>T
NP_001339535.1:n.-91G>T
NM_001352607.1:c.-91G>T
NP_001339536.1:n.-91G>T
NM_001352608.1:c.-91G>T
NP_001339537.1:n.-91G>T
NM_001352609.1:c.-91G>T
NP_001339538.1:n.-91G>T
NM_001352610.1:c.-957G>T
NP_001339539.1:n.-957G>T
NM_001352611.1:c.-957G>T
NP_001339540.1:n.-957G>T
NM_001352612.1:c.-957G>T
NP_001339541.1:n.-957G>T
NR_148027.1:n.16G>T
NR_148028.1:n.16G>T
NR_148029.1:n.16G>T
NR_148030.1:n.16G>T
NR_148031.1:n.16G>T
XM_017020605.1:c.-91G>T
XP_016876094.1:n.-91G>T
XM_017020611.1:c.-91G>T
XP_016876100.1:n.-91G>T
XM_017020612.1:c.-91G>T
XP_016876101.1:n.-91G>T
XM_017020613.1:c.-91G>T
XP_016876102.1:n.-91G>T
XM_017020615.1:c.-91G>T
XP_016876104.1:n.-91G>T
XM_017020616.1:c.-91G>T
XP_016876105.1:n.-91G>T
XR_001749567.1:n.11G>T
XR_001749568.1:n.11G>T
XR_001749569.1:n.11G>T
XR_001749576.1:n.11G>T
XR_001749577.1:n.11G>T