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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_000005.10:g.150073387T= , CM000667.2:g.150073387T=
GRCh38
NC_000005.9:g.149452950T= , CM000667.1:g.149452950T=
GRCh37
NC_000005.8:g.149433143T=
NCBI36
NG_012303.1:g.44986A=
NG_012303.2:g.44986A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000675795.1:c.996A=
MANE Select
ENSP00000501699.1:p.Gln332=
ENST00000286301.7:c.996A=
ENSP00000286301.3:p.Gln332=
ENST00000504875.5:c.996A=
ENSP00000422212.1:p.Gln332=
ENST00000543093.1:c.890-2816A=
ENSP00000445282.1:n.890-2816A=
NM_001288705.1:c.996A=
NP_001275634.1:p.Gln332=
NM_005211.3:c.996A=
NP_005202.2:p.Gln332=
NR_109969.1:n.1209A=
NM_001288705.2:c.996A=
NP_001275634.1:p.Gln332=
NM_001349736.1:c.996A=
NP_001336665.1:p.Gln332=
NM_001288705.3:c.996A=
MANE Select
NP_001275634.1:p.Gln332=
NM_001375320.1:c.996A=
NP_001362249.1:p.Gln332=
NM_001375321.1:c.552A=
NP_001362250.1:p.Gln184=
NR_164679.1:n.1052A=
NM_001349736.2:c.996A=
NP_001336665.1:p.Gln332=
NM_005211.4:c.996A=
NP_005202.2:p.Gln332=
NR_109969.2:n.1123A=