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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_000013.11:g.28018500G= , CM000675.2:g.28018500G=
GRCh38
NC_000013.10:g.28592637G= , CM000675.1:g.28592637G=
GRCh37
NC_000013.9:g.27490637G=
NCBI36
NG_007066.1:g.87069C= , LRG_457:g.87069C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000241453.12:c.2508C=
MANE Select
ENSP00000241453.7:p.Ile836=
ENST00000241453.11:c.2508C=
ENSP00000241453.7:p.Ile836=
ENST00000380987.2:c.*420C=
ENSP00000370374.2:n.*420C=
NM_004119.2:c.2508C= , LRG_457t1:c.2508C=
NP_004110.2:p.Ile836=
NR_130706.1:n.2722C=
XM_011535015.1:c.2451C=
XP_011533317.1:p.Ile817=
XM_011535016.1:c.1983C=
XP_011533318.1:p.Ile661=
XM_011535017.1:c.1983C=
XP_011533319.1:p.Ile661=
XM_011535018.1:c.1983C=
XP_011533320.1:p.Ile661=
XM_011535015.2:c.2451C=
XP_011533317.1:p.Ile817=
XM_011535017.2:c.1983C=
XP_011533319.1:p.Ile661=
XM_011535018.2:c.1983C=
XP_011533320.1:p.Ile661=
XM_017020486.1:c.2292C=
XP_016875975.1:p.Ile764=
XM_017020487.1:c.1983C=
XP_016875976.1:p.Ile661=
XM_017020488.1:c.1629C=
XP_016875977.1:p.Ile543=
XM_017020489.1:c.1611C=
XP_016875978.1:p.Ile537=
NM_004119.3:c.2508C=
MANE Select
NP_004110.2:p.Ile836=
NR_130706.2:n.2706C=