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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_000020.11:g.46725181T= , CM000682.2:g.46725181T=
GRCh38
NC_000020.10:g.45353820T= , CM000682.1:g.45353820T=
GRCh37
NC_000020.9:g.44787227T=
NCBI36
NG_016284.1:g.20542T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000359271.4:c.145T=
MANE Select
ENSP00000352216.2:p.Phe49=
ENST00000359271.3:c.145T=
ENSP00000352216.2:p.Phe49=
ENST00000611837.1:n.297T=
NM_030777.3:c.145T=
NP_110404.1:p.Phe49=
XM_011529060.1:c.208T=
XP_011527362.1:p.Phe70=
XM_011529061.1:c.154T=
XP_011527363.1:p.Phe52=
XM_011529062.1:c.208T=
XP_011527364.1:p.Phe70=
XM_011529063.1:c.208T=
XP_011527365.1:p.Phe70=
XM_011529064.1:c.208T=
XP_011527366.1:p.Phe70=
XM_011529065.1:c.208T=
XP_011527367.1:p.Phe70=
XR_936641.1:n.344T=
XM_011529060.2:c.208T=
XP_011527362.1:p.Phe70=
XM_011529061.2:c.154T=
XP_011527363.1:p.Phe52=
XM_011529062.2:c.208T=
XP_011527364.1:p.Phe70=
XM_011529063.2:c.208T=
XP_011527365.1:p.Phe70=
XM_011529064.2:c.208T=
XP_011527366.1:p.Phe70=
XM_011529065.2:c.208T=
XP_011527367.1:p.Phe70=
XM_017028087.2:c.145T=
XP_016883576.1:p.Phe49=
XR_936641.2:n.331T=
NM_030777.4:c.145T=
MANE Select
NP_110404.1:p.Phe49=