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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_000003.12:g.122254281A= , CM000665.2:g.122254281A=
GRCh38
NC_000003.11:g.121973128A= , CM000665.1:g.121973128A=
GRCh37
NC_000003.10:g.123455818A=
NCBI36
NG_009058.1:g.75599A=
NG_009058.2:g.75614A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000490131.7:c.92A=
ENSP00000418685.2:p.Asp31=
ENST00000498619.4:c.92A=
ENSP00000420194.1:p.Asp31=
ENST00000638296.1:n.11A=
ENST00000638421.1:c.92A=
ENSP00000492190.1:p.Asp31=
ENST00000639785.2:c.92A=
MANE Select
ENSP00000491584.2:p.Asp31=
ENST00000490131.5:c.92A=
ENSP00000418685.1:p.Asp31=
ENST00000498619.2:c.92A=
ENSP00000420194.1:p.Asp31=
NM_000388.3:c.92A=
NP_000379.2:p.Asp31=
NM_001178065.1:c.92A=
NP_001171536.1:p.Asp31=
XM_005247836.2:c.92A=
XP_005247893.1:p.Asp31=
XM_005247837.2:c.-85A=
XP_005247894.1:n.-85A=
XM_006713789.2:c.92A=
XP_006713852.1:p.Asp31=
XM_011513237.1:c.92A=
XP_011511539.1:p.Asp31=
XM_011513238.1:c.92A=
XP_011511540.1:p.Asp31=
XM_006713789.3:c.92A=
XP_006713852.1:p.Asp31=
XM_017007324.1:c.92A=
XP_016862813.1:p.Asp31=
XM_017007325.1:c.92A=
XP_016862814.1:p.Asp31=
NM_000388.4:c.92A=
MANE Select
NP_000379.3:p.Asp31=
NM_001178065.2:c.92A=
NP_001171536.2:p.Asp31=