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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_000018.10:g.11882198A= , CM000680.2:g.11882198A=
GRCh38
NC_000018.9:g.11882197A= , CM000680.1:g.11882197A=
GRCh37
NC_000018.8:g.11872197A=
NCBI36
NG_033866.1:g.198184A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000334049.11:c.*1063A=
MANE Select
ENSP00000334051.5:n.*1063A=
ENST00000423027.8:c.*1063A=
MANE Plus Clinical
ENSP00000408489.2:n.*1063A=
ENST00000334049.10:c.*1063A=
ENSP00000334051.5:n.*1063A=
NM_001142339.2:c.*1063A=
NP_001135811.1:n.*1063A=
NM_001261443.1:c.*1063A=
NP_001248372.1:n.*1063A=
NM_001261444.1:c.*1063A=
NP_001248373.1:n.*1063A=
NM_182978.3:c.*1063A=
NP_892023.1:n.*1063A=
XM_024451164.1:c.*1063A=
XP_024306932.1:n.*1063A=
NM_182978.4:c.*1063A=
MANE Select
NP_892023.1:n.*1063A=
NM_001261444.2:c.*1063A=
NP_001248373.1:n.*1063A=
NM_001369387.1:c.*1063A=
MANE Plus Clinical
NP_001356316.1:n.*1063A=
NM_001142339.3:c.*1063A=
NP_001135811.1:n.*1063A=
NM_001261443.2:c.*1063A=
NP_001248372.1:n.*1063A=