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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_000011.10:g.17387836A= , CM000673.2:g.17387836A=
GRCh38
NC_000011.9:g.17409383A= , CM000673.1:g.17409383A=
GRCh37
NC_000011.8:g.17365959A=
NCBI36
NG_012446.1:g.5824T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000528992.2:c.28T=
ENSP00000436479.2:p.Phe10=
ENST00000682350.1:c.-6T=
ENSP00000508090.1:n.-6T=
ENST00000682764.1:c.-6T=
ENSP00000506780.1:n.-6T=
ENST00000339994.5:c.256T=
MANE Select
ENSP00000345708.4:p.Phe86=
ENST00000339994.4:c.256T=
ENSP00000345708.4:p.Phe86=
ENST00000526912.1:c.-6T=
ENSP00000432729.1:n.-6T=
ENST00000528731.1:c.-6T=
ENSP00000434755.1:n.-6T=
ENST00000528992.1:c.273T=
NM_000525.3:c.256T=
NP_000516.3:p.Phe86=
NM_001166290.1:c.-6T=
NP_001159762.1:n.-6T=
XM_006718226.2:c.-6T=
XP_006718289.1:n.-6T=
XR_930867.1:n.414T=
XM_006718226.3:c.-6T=
XP_006718289.1:n.-6T=
XM_017017680.1:c.-6T=
XP_016873169.1:n.-6T=
NM_001166290.2:c.-6T=
NP_001159762.1:n.-6T=
NM_001377296.1:c.-6T=
NP_001364225.1:n.-6T=
NM_001377297.1:c.-6T=
NP_001364226.1:n.-6T=
NM_000525.4:c.256T=
MANE Select
NP_000516.3:p.Phe86=