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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_000014.9:g.44934510G= , CM000676.2:g.44934510G=
GRCh38
NC_000014.8:g.45403713G= , CM000676.1:g.45403713G=
GRCh37
NC_000014.7:g.44473463G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396128.9:c.948C=
MANE Select
ENSP00000379434.4:p.Pro316=
ENST00000355081.3:c.990C=
ENSP00000347193.2:p.Pro330=
ENST00000396128.8:c.948C=
ENSP00000379434.3:p.Pro316=
NM_001308112.1:c.990C=
NP_001295041.1:p.Pro330=
NM_017658.3:c.948C=
NP_060128.2:p.Pro316=
NM_017658.4:c.948C=
NP_060128.2:p.Pro316=
XM_005267770.2:c.948C=
XP_005267827.1:p.Pro316=
XM_011536847.1:c.948C=
XP_011535149.1:p.Pro316=
XM_011536848.1:c.948C=
XP_011535150.1:p.Pro316=
XM_011536849.1:c.990C=
XP_011535151.1:p.Pro330=
XM_005267770.4:c.948C=
XP_005267827.1:p.Pro316=
XM_011536847.3:c.948C=
XP_011535149.1:p.Pro316=
XM_011536849.2:c.990C=
XP_011535151.1:p.Pro330=
XM_024449635.1:c.948C=
XP_024305403.1:p.Pro316=
NM_001308112.2:c.990C=
NP_001295041.1:p.Pro330=
NM_017658.5:c.948C=
MANE Select
NP_060128.2:p.Pro316=