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WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13564475G>C , CM000674.2:g.13564475G>C
GRCh38
NC_000012.11:g.13717409G>C , CM000674.1:g.13717409G>C
GRCh37
NC_000012.10:g.13608676G>C
NCBI36
NG_031854.1:g.420614C>G
NG_031854.2:g.422538C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000609686.4:c.2763C>G
MANE Select
ENSP00000477455.1:p.Ala921=
ENST00000637214.1:c.69+44128C>G
ENSP00000489997.1:n.69+44128C>G
ENST00000609686.3:c.2763C>G
ENSP00000477455.1:p.Ala921=
ENST00000628166.1:n.1023C>G
NM_000834.3:c.2763C>G
NP_000825.2:p.Ala921=
XM_005253351.2:c.549C>G
XP_005253408.1:p.Ala183=
XM_011520628.1:c.2763C>G
XP_011518930.1:p.Ala921=
XM_011520629.1:c.2763C>G
XP_011518931.1:p.Ala921=
XM_011520630.1:c.2763C>G
XP_011518932.1:p.Ala921=
NM_000834.4:c.2763C>G
NP_000825.2:p.Ala921=
XM_005253351.3:c.549C>G
XP_005253408.1:p.Ala183=
XM_011520628.2:c.2763C>G
XP_011518930.1:p.Ala921=
XM_011520629.2:c.2763C>G
XP_011518931.1:p.Ala921=
XM_017019219.2:c.2763C>G
XP_016874708.1:p.Ala921=
NM_000834.5:c.2763C>G
MANE Select
NP_000825.2:p.Ala921=