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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_000002.12:g.168944630G= , CM000664.2:g.168944630G=
GRCh38
NC_000002.11:g.169801140G= , CM000664.1:g.169801140G=
GRCh37
NC_000002.10:g.169509386G=
NCBI36
NG_007374.1:g.91694C=
NG_007374.2:g.91767C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000649448.1:c.902C=
ENSP00000497165.1:p.Ala301=
ENST00000650372.1:c.2585C=
MANE Select
ENSP00000497931.1:p.Ala862=
ENST00000263817.6:c.2585C=
ENSP00000263817.6:p.Ala862=
ENST00000439188.1:c.1274C=
ENSP00000416058.1:n.1274C=
NM_003742.2:c.2585C=
NP_003733.2:p.Ala862=
XM_006712817.2:c.2627C=
XP_006712880.1:p.Ala876=
XM_011512077.1:c.2687C=
XP_011510379.1:p.Ala896=
XM_011512078.1:c.2687C=
XP_011510380.1:p.Ala896=
XM_011512079.1:c.2687C=
XP_011510381.1:p.Ala896=
XM_011512080.1:c.2687C=
XP_011510382.1:p.Ala896=
XM_011512081.1:c.911C=
XP_011510383.1:p.Ala304=
NM_003742.4:c.2585C=
MANE Select
NP_003733.2:p.Ala862=
XM_006712817.3:c.2627C=
XP_006712880.1:p.Ala876=
XM_011512077.2:c.2687C=
XP_011510379.1:p.Ala896=
XM_011512078.2:c.2687C=
XP_011510380.1:p.Ala896=
XM_011512080.2:c.2687C=
XP_011510382.1:p.Ala896=
XM_011512081.2:c.911C=
XP_011510383.1:p.Ala304=
XM_017005165.1:c.2687C=
XP_016860654.1:p.Ala896=
XM_017005166.1:c.1916C=
XP_016860655.1:p.Ala639=
XM_017005167.1:c.1370C=
XP_016860656.1:p.Ala457=