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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.23554903C= , CM000680.2:g.23554903C=
GRCh38
NC_000018.9:g.21134867C= , CM000680.1:g.21134867C=
GRCh37
NC_000018.8:g.19388865C=
NCBI36
NG_012795.1:g.36715G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000269228.10:c.1408G=
MANE Select
ENSP00000269228.4:p.Ala470=
ENST00000269228.9:c.1408G=
ENSP00000269228.4:p.Ala470=
ENST00000540608.5:n.1322G=
ENST00000590301.1:n.83G=
ENST00000591051.1:c.690G=
NM_000271.4:c.1408G=
NP_000262.2:p.Ala470=
XM_005258277.1:c.1459G=
XP_005258334.1:p.Ala487=
XM_005258278.3:c.1459G=
XP_005258335.1:p.Ala487=
XM_005258279.1:c.1408G=
XP_005258336.1:p.Ala470=
XM_006722479.2:c.1459G=
XP_006722542.1:p.Ala487=
XM_011526015.1:c.994G=
XP_011524317.1:p.Ala332=
XM_005258278.5:c.1459G=
XP_005258335.1:p.Ala487=
XM_005258279.2:c.1408G=
XP_005258336.1:p.Ala470=
XM_006722479.3:c.1459G=
XP_006722542.1:p.Ala487=
XM_017025784.1:c.1459G=
XP_016881273.1:p.Ala487=
XM_017025785.1:c.1459G=
XP_016881274.1:p.Ala487=
XM_017025786.1:c.1408G=
XP_016881275.1:p.Ala470=
XM_017025787.1:c.1408G=
XP_016881276.1:p.Ala470=
NM_000271.5:c.1408G=
MANE Select
NP_000262.2:p.Ala470=