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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_000016.10:g.53470814G= , CM000678.2:g.53470814G=
GRCh38
NC_000016.9:g.53504726G= , CM000678.1:g.53504726G=
GRCh37
NC_000016.8:g.52062227G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000262133.11:c.2595G=
MANE Select
ENSP00000262133.6:p.Arg865=
ENST00000680543.1:n.4386G=
ENST00000262133.10:c.2595G=
ENSP00000262133.6:p.Arg865=
ENST00000379935.8:n.2294G=
ENST00000544545.2:c.1725G=
ENSP00000444685.2:p.Arg575=
NM_005611.3:c.2595G=
NP_005602.3:p.Arg865=
XM_005256083.3:c.2373G=
XP_005256140.1:p.Arg791=
XM_011523252.1:c.2595G=
XP_011521554.1:p.Arg865=
XM_011523253.1:c.1947G=
XP_011521555.1:p.Arg649=
NM_001323608.1:c.2595G=
NP_001310537.1:p.Arg865=
NM_001323609.1:c.2595G=
NP_001310538.1:p.Arg865=
NM_001323610.1:c.2448G=
NP_001310539.1:p.Arg816=
NM_001323611.1:c.2373G=
NP_001310540.1:p.Arg791=
XM_011523253.2:c.1947G=
XP_011521555.1:p.Arg649=
XM_017023513.1:c.1947G=
XP_016879002.1:p.Arg649=
NM_005611.4:c.2595G=
MANE Select
NP_005602.3:p.Arg865=
NM_001323608.2:c.2595G=
NP_001310537.1:p.Arg865=
NM_001323609.2:c.2595G=
NP_001310538.1:p.Arg865=
NM_001323610.2:c.2448G=
NP_001310539.1:p.Arg816=