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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_000018.10:g.23556276A= , CM000680.2:g.23556276A=
GRCh38
NC_000018.9:g.21136240A= , CM000680.1:g.21136240A=
GRCh37
NC_000018.8:g.19390238A=
NCBI36
NG_012795.1:g.35342T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000269228.10:c.1293T=
MANE Select
ENSP00000269228.4:p.Phe431=
ENST00000269228.9:c.1293T=
ENSP00000269228.4:p.Phe431=
ENST00000540608.5:n.1207T=
ENST00000591051.1:c.575T=
NM_000271.4:c.1293T=
NP_000262.2:p.Phe431=
XM_005258277.1:c.1344T=
XP_005258334.1:p.Phe448=
XM_005258278.3:c.1344T=
XP_005258335.1:p.Phe448=
XM_005258279.1:c.1293T=
XP_005258336.1:p.Phe431=
XM_006722479.2:c.1344T=
XP_006722542.1:p.Phe448=
XM_011526015.1:c.879T=
XP_011524317.1:p.Phe293=
XM_005258278.5:c.1344T=
XP_005258335.1:p.Phe448=
XM_005258279.2:c.1293T=
XP_005258336.1:p.Phe431=
XM_006722479.3:c.1344T=
XP_006722542.1:p.Phe448=
XM_017025784.1:c.1344T=
XP_016881273.1:p.Phe448=
XM_017025785.1:c.1344T=
XP_016881274.1:p.Phe448=
XM_017025786.1:c.1293T=
XP_016881275.1:p.Phe431=
XM_017025787.1:c.1293T=
XP_016881276.1:p.Phe431=
NM_000271.5:c.1293T=
MANE Select
NP_000262.2:p.Phe431=