×
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.50084823C= , CM000684.2:g.50084823C=
GRCh38
NC_000022.10:g.50523252C= , CM000684.1:g.50523252C=
GRCh37
NC_000022.9:g.48865379C=
NCBI36
NG_009162.1:g.6107G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000311597.10:c.80G=
MANE Select
ENSP00000310375.6:p.Ser27=
ENST00000311597.9:c.80G=
ENSP00000310375.5:p.Ser27=
ENST00000395876.6:c.80G=
ENSP00000379216.2:p.Ser27=
ENST00000442311.1:c.80G=
ENSP00000401385.1:p.Ser27=
NM_015166.3:c.80G=
NP_055981.1:p.Ser27=
NM_139202.2:c.80G=
NP_631941.1:p.Ser27=
XM_011530678.1:c.80G=
XP_011528980.1:p.Ser27=
XR_430476.2:n.475G=
XM_011530678.2:c.80G=
XP_011528980.1:p.Ser27=
XM_017028671.1:c.80G=
XP_016884160.1:p.Ser27=
XR_001755180.2:n.585G=
XR_001755181.2:n.353G=
NM_001376472.1:c.80G=
NP_001363401.1:p.Ser27=
NM_001376473.1:c.80G=
NP_001363402.1:p.Ser27=
NM_001376474.1:c.80G=
NP_001363403.1:p.Ser27=
NM_001376475.1:c.80G=
NP_001363404.1:p.Ser27=
NM_001376476.1:c.80G=
NP_001363405.1:p.Ser27=
NM_001376477.1:c.80G=
NP_001363406.1:p.Ser27=
NM_001376478.1:c.80G=
NP_001363407.1:p.Ser27=
NM_001376479.1:c.80G=
NP_001363408.1:p.Ser27=
NM_001376480.1:c.80G=
NP_001363409.1:p.Ser27=
NM_001376481.1:c.80G=
NP_001363410.1:p.Ser27=
NM_001376482.1:c.80G=
NP_001363411.1:p.Ser27=
NM_001376483.1:c.80G=
NP_001363412.1:p.Ser27=
NM_001376484.1:c.-59+532G=
NP_001363413.1:n.-59+532G=
NM_015166.4:c.80G=
MANE Select
NP_055981.1:p.Ser27=
NM_139202.3:c.80G=
NP_631941.1:p.Ser27=
NR_164811.1:n.427G=
NR_164812.1:n.211G=
NR_164813.1:n.604G=