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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_000015.10:g.78500211A= , CM000677.2:g.78500211A=
GRCh38
NC_000015.9:g.78792553A= , CM000677.1:g.78792553A=
GRCh37
NC_000015.8:g.76579608A=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000258886.13:c.*2068A=
MANE Select
ENSP00000258886.8:n.*2068A=
ENST00000258886.12:c.*2068A=
ENSP00000258886.8:n.*2068A=
NM_004136.2:c.*2068A=
NP_004127.1:n.*2068A=
NM_001320941.1:c.*2068A=
NP_001307870.1:n.*2068A=
NM_001320942.1:c.*2068A=
NP_001307871.1:n.*2068A=
NM_001354994.1:c.*2068A=
NP_001341923.1:n.*2068A=
NM_004136.3:c.*2068A=
NP_004127.1:n.*2068A=
NM_004136.4:c.*2068A=
MANE Select
NP_004127.2:n.*2068A=
NM_001320941.2:c.*2068A=
NP_001307870.2:n.*2068A=
NM_001320942.2:c.*2068A=
NP_001307871.2:n.*2068A=
NM_001354994.2:c.*2068A=
NP_001341923.2:n.*2068A=