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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_000006.12:g.107634728C= , CM000668.2:g.107634728C=
GRCh38
NC_000006.11:g.107955932C= , CM000668.1:g.107955932C=
GRCh37
NC_000006.10:g.108062625C=
NCBI36
NG_028200.1:g.149616C=
NG_028200.2:g.149616C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317357.10:c.1884C=
MANE Select
ENSP00000318900.5:p.Gly628=
ENST00000317357.9:c.1884C=
ENSP00000318900.5:p.Gly628=
NM_018013.3:c.1884C=
NP_060483.3:p.Gly628=
XM_005267041.3:c.2037C=
XP_005267098.1:p.Gly679=
XM_005267042.3:c.1941C=
XP_005267099.1:p.Gly647=
XM_011535920.1:c.2037C=
XP_011534222.1:p.Gly679=
XM_011535921.1:c.1923C=
XP_011534223.1:p.Gly641=
XM_011535922.1:c.1296C=
XP_011534224.1:p.Gly432=
XM_011535923.1:c.1107C=
XP_011534225.1:p.Gly369=
XM_005267041.4:c.2037C=
XP_005267098.1:p.Gly679=
XM_005267042.4:c.1941C=
XP_005267099.1:p.Gly647=
XM_011535920.2:c.2037C=
XP_011534222.1:p.Gly679=
XM_011535921.2:c.1923C=
XP_011534223.1:p.Gly641=
XM_011535923.2:c.1107C=
XP_011534225.1:p.Gly369=
XM_017010991.1:c.1437C=
XP_016866480.1:p.Gly479=
XM_017010992.1:c.1437C=
XP_016866481.1:p.Gly479=
XM_017010993.1:c.1437C=
XP_016866482.1:p.Gly479=
XM_017010994.1:c.1437C=
XP_016866483.1:p.Gly479=
NM_018013.4:c.1884C=
MANE Select
NP_060483.3:p.Gly628=