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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_000012.12:g.25245387T= , CM000674.2:g.25245387T=
GRCh38
NC_000012.11:g.25398321T= , CM000674.1:g.25398321T=
GRCh37
NC_000012.10:g.25289588T=
NCBI36
NG_007524.1:g.10534A=
NG_007524.2:g.10617A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000556131.2:c.-3A=
ENSP00000451856.1:n.-3A=
ENST00000557334.6:c.-3A=
ENSP00000452512.1:n.-3A=
ENST00000685328.1:c.-3A=
ENSP00000508921.1:n.-3A=
ENST00000686877.1:c.-3A=
ENSP00000510431.1:n.-3A=
ENST00000686969.1:c.-3A=
ENSP00000510479.1:n.-3A=
ENST00000687356.1:c.-3A=
ENSP00000510511.1:n.-3A=
ENST00000688940.1:c.-3A=
ENSP00000509238.1:n.-3A=
ENST00000690804.1:c.-3A=
ENSP00000508568.1:n.-3A=
ENST00000692768.1:c.-88+5364A=
ENSP00000510254.1:n.-88+5364A=
ENST00000693229.1:c.-3A=
ENSP00000509223.1:n.-3A=
ENST00000256078.10:c.-3A=
MANE Plus Clinical
ENSP00000256078.5:n.-3A=
ENST00000311936.8:c.-3A=
MANE Select
ENSP00000308495.3:n.-3A=
ENST00000256078.8:c.-3A=
ENSP00000256078.4:n.-3A=
ENST00000311936.7:c.-3A=
ENSP00000308495.3:n.-3A=
ENST00000556131.1:c.-3A=
ENSP00000451856.1:n.-3A=
ENST00000557334.5:c.-3A=
ENSP00000452512.1:n.-3A=
NM_004985.4:c.-3A=
NP_004976.2:n.-3A=
NM_033360.3:c.-3A=
NP_203524.1:n.-3A=
XM_006719069.2:c.-3A=
XP_006719132.1:n.-3A=
XM_011520653.1:c.-3A=
XP_011518955.1:n.-3A=
XM_006719069.4:c.-3A=
XP_006719132.1:n.-3A=
XM_011520653.3:c.-3A=
XP_011518955.1:n.-3A=
NM_001369786.1:c.-3A=
NP_001356715.1:n.-3A=
NM_001369787.1:c.-3A=
NP_001356716.1:n.-3A=
NM_004985.5:c.-3A=
MANE Select
NP_004976.2:n.-3A=
NM_033360.4:c.-3A=
MANE Plus Clinical
NP_203524.1:n.-3A=