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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_000011.10:g.17387833C= , CM000673.2:g.17387833C=
GRCh38
NC_000011.9:g.17409380C= , CM000673.1:g.17409380C=
GRCh37
NC_000011.8:g.17365956C=
NCBI36
NG_012446.1:g.5827G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000528992.2:c.31G=
ENSP00000436479.2:p.Ala11=
ENST00000682350.1:c.-3G=
ENSP00000508090.1:n.-3G=
ENST00000682764.1:c.-3G=
ENSP00000506780.1:n.-3G=
ENST00000339994.5:c.259G=
MANE Select
ENSP00000345708.4:p.Ala87=
ENST00000339994.4:c.259G=
ENSP00000345708.4:p.Ala87=
ENST00000526912.1:c.-3G=
ENSP00000432729.1:n.-3G=
ENST00000528731.1:c.-3G=
ENSP00000434755.1:n.-3G=
ENST00000528992.1:c.276G=
NM_000525.3:c.259G=
NP_000516.3:p.Ala87=
NM_001166290.1:c.-3G=
NP_001159762.1:n.-3G=
XM_006718226.2:c.-3G=
XP_006718289.1:n.-3G=
XR_930867.1:n.417G=
XM_006718226.3:c.-3G=
XP_006718289.1:n.-3G=
XM_017017680.1:c.-3G=
XP_016873169.1:n.-3G=
NM_001166290.2:c.-3G=
NP_001159762.1:n.-3G=
NM_001377296.1:c.-3G=
NP_001364225.1:n.-3G=
NM_001377297.1:c.-3G=
NP_001364226.1:n.-3G=
NM_000525.4:c.259G=
MANE Select
NP_000516.3:p.Ala87=