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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_000019.10:g.33302356T>G , CM000681.2:g.33302356T>G
GRCh38
NC_000019.9:g.33793262T>G , CM000681.1:g.33793262T>G
GRCh37
NC_000019.8:g.38485102T>G
NCBI36
NG_012022.1:g.5169A>C , LRG_456:g.5169A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000498907.3:c.59A>C
MANE Select
ENSP00000427514.1:p.Gln20Pro
ENST00000498907.2:c.59A>C
ENSP00000427514.1:p.Gln20Pro
NM_001285829.1:c.-299A>C
NP_001272758.1:n.-299A>C
NM_001287424.1:c.164A>C
NP_001274353.1:p.Gln55Pro
NM_001287435.1:c.17A>C
NP_001274364.1:p.Gln6Pro
NM_004364.4:c.59A>C
NP_004355.2:p.Gln20Pro
NM_001287424.2:c.164A>C
NP_001274353.1:p.Gln55Pro
NM_004364.5:c.59A>C
MANE Select
NP_004355.2:p.Gln20Pro
NM_001285829.2:c.-299A>C
NP_001272758.1:n.-299A>C
NM_001287435.2:c.17A>C
NP_001274364.1:p.Gln6Pro