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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.50084825G= , CM000684.2:g.50084825G=
GRCh38
NC_000022.10:g.50523254G= , CM000684.1:g.50523254G=
GRCh37
NC_000022.9:g.48865381G=
NCBI36
NG_009162.1:g.6105C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000311597.10:c.78C=
MANE Select
ENSP00000310375.6:p.Ala26=
ENST00000311597.9:c.78C=
ENSP00000310375.5:p.Ala26=
ENST00000395876.6:c.78C=
ENSP00000379216.2:p.Ala26=
ENST00000442311.1:c.78C=
ENSP00000401385.1:p.Ala26=
NM_015166.3:c.78C=
NP_055981.1:p.Ala26=
NM_139202.2:c.78C=
NP_631941.1:p.Ala26=
XM_011530678.1:c.78C=
XP_011528980.1:p.Ala26=
XR_430476.2:n.473C=
XM_011530678.2:c.78C=
XP_011528980.1:p.Ala26=
XM_017028671.1:c.78C=
XP_016884160.1:p.Ala26=
XR_001755180.2:n.583C=
XR_001755181.2:n.351C=
NM_001376472.1:c.78C=
NP_001363401.1:p.Ala26=
NM_001376473.1:c.78C=
NP_001363402.1:p.Ala26=
NM_001376474.1:c.78C=
NP_001363403.1:p.Ala26=
NM_001376475.1:c.78C=
NP_001363404.1:p.Ala26=
NM_001376476.1:c.78C=
NP_001363405.1:p.Ala26=
NM_001376477.1:c.78C=
NP_001363406.1:p.Ala26=
NM_001376478.1:c.78C=
NP_001363407.1:p.Ala26=
NM_001376479.1:c.78C=
NP_001363408.1:p.Ala26=
NM_001376480.1:c.78C=
NP_001363409.1:p.Ala26=
NM_001376481.1:c.78C=
NP_001363410.1:p.Ala26=
NM_001376482.1:c.78C=
NP_001363411.1:p.Ala26=
NM_001376483.1:c.78C=
NP_001363412.1:p.Ala26=
NM_001376484.1:c.-59+530C=
NP_001363413.1:n.-59+530C=
NM_015166.4:c.78C=
MANE Select
NP_055981.1:p.Ala26=
NM_139202.3:c.78C=
NP_631941.1:p.Ala26=
NR_164811.1:n.425C=
NR_164812.1:n.209C=
NR_164813.1:n.602C=