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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_000023.11:g.85963720G= , CM000685.2:g.85963720G=
GRCh38
NC_000023.10:g.85218725G= , CM000685.1:g.85218725G=
GRCh37
NC_000023.9:g.85105381G=
NCBI36
NG_009874.2:g.88843C= , LRG_699:g.88843C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000357749.7:c.647C=
MANE Select
ENSP00000350386.2:p.Thr216=
ENST00000357749.6:c.647C=
ENSP00000350386.2:p.Thr216=
ENST00000467744.2:n.126+63771C=
NM_000390.2:c.647C= , LRG_699t1:c.647C=
NP_000381.1:p.Thr216=
XM_006724615.2:c.584C=
XP_006724678.1:p.Thr195=
XM_011530839.1:c.203C=
XP_011529141.1:p.Thr68=
NM_000390.3:c.647C=
NP_000381.1:p.Thr216=
NM_001320959.1:c.203C=
NP_001307888.1:p.Thr68=
NM_001362517.1:c.203C=
NP_001349446.1:p.Thr68=
NM_001362518.1:c.203C=
NP_001349447.1:p.Thr68=
NM_001362519.1:c.203C=
NP_001349448.1:p.Thr68=
XM_017029242.2:c.647C=
XP_016884731.1:p.Thr216=
XM_017029246.1:c.203C=
XP_016884735.1:p.Thr68=
XM_024452331.1:c.203C=
XP_024308099.1:p.Thr68=
NM_000390.4:c.647C=
MANE Select
NP_000381.1:p.Thr216=
NM_001362518.2:c.203C=
NP_001349447.1:p.Thr68=