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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.100089116C= , CM000675.2:g.100089116C=
GRCh38
NC_000013.10:g.100741370C= , CM000675.1:g.100741370C=
GRCh37
NC_000013.9:g.99539371C=
NCBI36
NG_008768.1:g.5034C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000376285.6:c.-5C=
MANE Select
ENSP00000365462.1:n.-5C=
ENST00000647303.1:c.-5C=
ENSP00000495663.1:n.-5C=
ENST00000376279.7:c.-5C=
ENSP00000365456.3:n.-5C=
ENST00000376285.5:c.-5C=
ENSP00000365462.1:n.-5C=
ENST00000376286.8:c.-5C=
ENSP00000365463.4:n.-5C=
NM_000282.3:c.-5C=
NP_000273.2:n.-5C=
NM_001127692.2:c.-5C=
NP_001121164.1:n.-5C=
NM_001178004.1:c.-5C=
NP_001171475.1:n.-5C=
XM_005254059.2:c.-5C=
XP_005254116.1:n.-5C=
XM_011521093.1:c.-5C=
XP_011519395.1:n.-5C=
XR_931615.1:n.97C=
XR_931616.1:n.97C=
NM_001352605.1:c.-5C=
NP_001339534.1:n.-5C=
NM_001352606.1:c.-5C=
NP_001339535.1:n.-5C=
NM_001352607.1:c.-5C=
NP_001339536.1:n.-5C=
NM_001352608.1:c.-5C=
NP_001339537.1:n.-5C=
NM_001352609.1:c.-5C=
NP_001339538.1:n.-5C=
NM_001352610.1:c.-871C=
NP_001339539.1:n.-871C=
NM_001352611.1:c.-871C=
NP_001339540.1:n.-871C=
NM_001352612.1:c.-871C=
NP_001339541.1:n.-871C=
NR_148027.1:n.102C=
NR_148028.1:n.102C=
NR_148029.1:n.102C=
NR_148030.1:n.102C=
NR_148031.1:n.102C=
XM_017020605.1:c.-5C=
XP_016876094.1:n.-5C=
XM_017020606.1:c.-5C=
XP_016876095.1:n.-5C=
XM_017020611.1:c.-5C=
XP_016876100.1:n.-5C=
XM_017020612.1:c.-5C=
XP_016876101.1:n.-5C=
XM_017020613.1:c.-5C=
XP_016876102.1:n.-5C=
XM_017020615.1:c.-5C=
XP_016876104.1:n.-5C=
XM_017020616.1:c.-5C=
XP_016876105.1:n.-5C=
XR_001749567.1:n.97C=
XR_001749568.1:n.97C=
XR_001749569.1:n.97C=
XR_001749574.1:n.26C=
XR_001749576.1:n.97C=
XR_001749577.1:n.97C=
NM_000282.4:c.-5C=
MANE Select
NP_000273.2:n.-5C=
NM_001352605.2:c.-5C=
NP_001339534.1:n.-5C=
NM_001352606.2:c.-5C=
NP_001339535.1:n.-5C=
NM_001352607.2:c.-5C=
NP_001339536.1:n.-5C=
NM_001352608.2:c.-5C=
NP_001339537.1:n.-5C=
NM_001352609.2:c.-5C=
NP_001339538.1:n.-5C=
NM_001352610.2:c.-871C=
NP_001339539.1:n.-871C=
NM_001352611.2:c.-871C=
NP_001339540.1:n.-871C=
NM_001352612.2:c.-871C=
NP_001339541.1:n.-871C=
NR_148027.2:n.24C=
NR_148028.2:n.24C=
NR_148029.2:n.24C=
NR_148030.2:n.24C=
NR_148031.2:n.24C=
NM_001127692.3:c.-5C=
NP_001121164.1:n.-5C=
NM_001178004.2:c.-5C=
NP_001171475.1:n.-5C=