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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.85958923G>T , CM000685.2:g.85958923G>T
GRCh38
NC_000023.10:g.85213928G>T , CM000685.1:g.85213928G>T
GRCh37
NC_000023.9:g.85100584G>T
NCBI36
NG_009874.2:g.93640C>A , LRG_699:g.93640C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000357749.7:c.757C>A
MANE Select
ENSP00000350386.2:p.Arg253=
ENST00000357749.6:c.757C>A
ENSP00000350386.2:p.Arg253=
ENST00000467744.2:n.126+68568C>A
NM_000390.2:c.757C>A , LRG_699t1:c.757C>A
NP_000381.1:p.Arg253=
XM_006724615.2:c.694C>A
XP_006724678.1:p.Arg232=
XM_011530839.1:c.313C>A
XP_011529141.1:p.Arg105=
NM_000390.3:c.757C>A
NP_000381.1:p.Arg253=
NM_001320959.1:c.313C>A
NP_001307888.1:p.Arg105=
NM_001362517.1:c.313C>A
NP_001349446.1:p.Arg105=
NM_001362518.1:c.313C>A
NP_001349447.1:p.Arg105=
NM_001362519.1:c.313C>A
NP_001349448.1:p.Arg105=
XM_017029242.2:c.757C>A
XP_016884731.1:p.Arg253=
XM_017029246.1:c.313C>A
XP_016884735.1:p.Arg105=
XM_024452331.1:c.313C>A
XP_024308099.1:p.Arg105=
NM_000390.4:c.757C>A
MANE Select
NP_000381.1:p.Arg253=
NM_001362518.2:c.313C>A
NP_001349447.1:p.Arg105=