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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.91338044C= , CM000676.2:g.91338044C=
GRCh38
NC_000014.8:g.91804388C= , CM000676.1:g.91804388C=
GRCh37
NC_000014.7:g.90874141C=
NCBI36
NG_033118.1:g.84801G=
NG_033118.2:g.84801G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000389857.11:c.1011G=
MANE Select
ENSP00000374507.6:p.Glu337=
ENST00000389857.10:c.1011G=
ENSP00000374507.6:p.Glu337=
NM_001080414.3:c.1011G=
NP_001073883.2:p.Glu337=
XM_005267691.3:c.1011G=
XP_005267748.1:p.Glu337=
XM_011536796.1:c.903G=
XP_011535098.1:p.Glu301=
XR_429316.2:n.1139G=
XR_943459.1:n.1139G=
XM_005267691.5:c.1011G=
XP_005267748.1:p.Glu337=
XM_011536796.2:c.903G=
XP_011535098.1:p.Glu301=
XM_017021335.2:c.1011G=
XP_016876824.1:p.Glu337=
XM_017021337.2:c.1011G=
XP_016876826.1:p.Glu337=
XR_429316.4:n.1137G=
NM_001080414.4:c.1011G=
MANE Select
NP_001073883.2:p.Glu337=