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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_000017.11:g.18119919A>C , CM000679.2:g.18119919A>C
GRCh38
NC_000017.10:g.18023233A>C , CM000679.1:g.18023233A>C
GRCh37
NC_000017.9:g.17963958A>C
NCBI36
NG_011634.1:g.16214A>C
NG_011634.2:g.16214A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000647165.2:c.1119A>C
MANE Select
ENSP00000495481.1:p.Gly373=
ENST00000205890.9:c.1119A>C
ENSP00000205890.5:p.Gly373=
ENST00000583079.1:n.752A>C
ENST00000615845.4:c.1119A>C
ENSP00000481642.1:p.Gly373=
NM_016239.3:c.1119A>C
NP_057323.3:p.Gly373=
XM_011523917.1:c.1119A>C
XP_011522219.1:p.Gly373=
XM_011523918.1:c.1119A>C
XP_011522220.1:p.Gly373=
XM_011523919.1:c.1119A>C
XP_011522221.1:p.Gly373=
XM_011523920.1:c.1119A>C
XP_011522222.1:p.Gly373=
XM_011523921.1:c.1119A>C
XP_011522223.1:p.Gly373=
XR_934037.1:n.1778A>C
XR_934038.1:n.1778A>C
XR_934039.1:n.1778A>C
XM_011523918.2:c.1119A>C
XP_011522220.1:p.Gly373=
XM_017024714.2:c.1119A>C
XP_016880203.1:p.Gly373=
XM_017024715.2:c.1119A>C
XP_016880204.1:p.Gly373=
XM_024450780.1:c.1119A>C
XP_024306548.1:p.Gly373=
XM_024450781.1:c.1119A>C
XP_024306549.1:p.Gly373=
XM_024450782.1:c.1119A>C
XP_024306550.1:p.Gly373=
XR_934039.2:n.1817A>C
NM_016239.4:c.1119A>C
MANE Select
NP_057323.3:p.Gly373=