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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_000010.11:g.101553889C= , CM000672.2:g.101553889C=
GRCh38
NC_000010.10:g.103313646C= , CM000672.1:g.103313646C=
GRCh37
NC_000010.9:g.103303636C=
NCBI36
NG_009234.1:g.204822C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000370187.8:c.*766C=
MANE Select
ENSP00000359206.3:n.*766C=
ENST00000370187.7:c.*766C=
ENSP00000359206.3:n.*766C=
ENST00000393441.8:c.*766C=
ENSP00000377088.5:n.*766C=
ENST00000408038.6:c.*766C=
ENSP00000385339.2:n.*766C=
NM_001256856.1:c.*766C=
NP_001243785.1:n.*766C=
NM_003939.4:c.*766C=
NP_003930.1:n.*766C=
NM_033637.3:c.*766C=
NP_378663.1:n.*766C=
XM_005270264.2:c.*766C=
XP_005270321.1:n.*766C=
XM_006718054.2:c.*766C=
XP_006718117.1:n.*766C=
XM_011540320.1:c.*766C=
XP_011538622.1:n.*766C=
XM_011540320.2:c.*766C=
XP_011538622.1:n.*766C=
XM_017016870.1:c.*766C=
XP_016872359.1:n.*766C=
XM_017016871.1:c.*766C=
XP_016872360.1:n.*766C=
XM_017016872.1:c.*766C=
XP_016872361.1:n.*766C=
XM_017016873.2:c.*766C=
XP_016872362.1:n.*766C=
XM_017016874.1:c.*766C=
XP_016872363.1:n.*766C=
XM_024448246.1:c.*766C=
XP_024304014.1:n.*766C=
XM_024448247.1:c.*766C=
XP_024304015.1:n.*766C=
XR_001747256.1:n.2935C=
NM_033637.4:c.*766C=
MANE Select
NP_378663.1:n.*766C=
NM_003939.5:c.*766C=
NP_003930.1:n.*766C=
NM_001256856.2:c.*766C=
NP_001243785.1:n.*766C=