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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_000023.11:g.85958888A>G , CM000685.2:g.85958888A>G
GRCh38
NC_000023.10:g.85213893A>G , CM000685.1:g.85213893A>G
GRCh37
NC_000023.9:g.85100549A>G
NCBI36
NG_009874.2:g.93675T>C , LRG_699:g.93675T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357749.7:c.792T>C
MANE Select
ENSP00000350386.2:p.Leu264=
ENST00000357749.6:c.792T>C
ENSP00000350386.2:p.Leu264=
ENST00000467744.2:n.126+68603T>C
NM_000390.2:c.792T>C , LRG_699t1:c.792T>C
NP_000381.1:p.Leu264=
XM_006724615.2:c.729T>C
XP_006724678.1:p.Leu243=
XM_011530839.1:c.348T>C
XP_011529141.1:p.Leu116=
NM_000390.3:c.792T>C
NP_000381.1:p.Leu264=
NM_001320959.1:c.348T>C
NP_001307888.1:p.Leu116=
NM_001362517.1:c.348T>C
NP_001349446.1:p.Leu116=
NM_001362518.1:c.348T>C
NP_001349447.1:p.Leu116=
NM_001362519.1:c.348T>C
NP_001349448.1:p.Leu116=
XM_017029242.2:c.792T>C
XP_016884731.1:p.Leu264=
XM_017029246.1:c.348T>C
XP_016884735.1:p.Leu116=
XM_024452331.1:c.348T>C
XP_024308099.1:p.Leu116=
NM_000390.4:c.792T>C
MANE Select
NP_000381.1:p.Leu264=
NM_001362518.2:c.348T>C
NP_001349447.1:p.Leu116=