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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_000002.12:g.102452345T>G , CM000664.2:g.102452345T>G
GRCh38
NC_000002.11:g.103068805T>G , CM000664.1:g.103068805T>G
GRCh37
NC_000002.10:g.102435237T>G
NCBI36
NG_011481.1:g.38552T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687160.1:c.*164T>G
MANE Select
ENSP00000510345.1:n.*164T>G
ENST00000264260.6:c.*164T>G
ENSP00000264260.2:n.*164T>G
ENST00000409369.1:c.*164T>G
ENSP00000387201.1:n.*164T>G
NM_003853.3:c.*164T>G
NP_003844.1:n.*164T>G
XM_011512087.1:c.*164T>G
XP_011510389.1:n.*164T>G
XM_011512088.1:c.*164T>G
XP_011510390.1:n.*164T>G
XM_011512087.2:c.*164T>G
XP_011510389.1:n.*164T>G
XM_011512088.2:c.*164T>G
XP_011510390.1:n.*164T>G
XM_017005173.1:c.*164T>G
XP_016860662.1:n.*164T>G
XM_024453197.1:c.*164T>G
XP_024308965.1:n.*164T>G
XM_024453198.1:c.*164T>G
XP_024308966.1:n.*164T>G
XM_024453199.1:c.*164T>G
XP_024308967.1:n.*164T>G
XM_024453200.1:c.*164T>G
XP_024308968.1:n.*164T>G
XM_024453201.1:c.*164T>G
XP_024308969.1:n.*164T>G
NM_001393486.1:c.*164T>G
NP_001380415.1:n.*164T>G
NM_001393487.1:c.*164T>G
MANE Select
NP_001380416.1:n.*164T>G
NM_001393488.1:c.*164T>G
NP_001380417.1:n.*164T>G
NM_001393489.1:c.*164T>G
NP_001380418.1:n.*164T>G
NM_003853.4:c.*164T>G
NP_003844.1:n.*164T>G