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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.67483155G= , CM000673.2:g.67483155G=
GRCh38
NC_000011.9:g.67250626G= , CM000673.1:g.67250626G=
GRCh37
NC_000011.8:g.67007202G=
NCBI36
NG_008969.1:g.5122G= , LRG_460:g.5122G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000528641.7:c.-4G=
ENSP00000434982.3:n.-4G=
ENST00000682324.1:c.-4G=
ENSP00000508017.1:n.-4G=
ENST00000682659.1:c.-4G=
ENSP00000507351.1:n.-4G=
ENST00000682699.1:c.-4G=
ENSP00000507935.1:n.-4G=
ENST00000683237.1:c.-4G=
ENSP00000507343.1:n.-4G=
ENST00000684006.1:c.-4G=
ENSP00000507269.1:n.-4G=
ENST00000684657.1:c.-4G=
ENSP00000507961.1:n.-4G=
ENST00000279146.8:c.-4G=
MANE Select
ENSP00000279146.3:n.-4G=
ENST00000279146.7:c.-4G=
ENSP00000279146.3:n.-4G=
ENST00000528641.6:c.-4G=
ENSP00000434982.2:n.-4G=
ENST00000529797.1:n.107G=
NM_001302960.1:c.-4G=
NP_001289889.1:n.-4G=
NM_003977.3:c.-4G=
NP_003968.3:n.-4G=
XM_024448761.1:c.-4G=
XP_024304529.1:n.-4G=
NM_003977.4:c.-4G=
MANE Select
NP_003968.3:n.-4G=
NM_001302960.2:c.-4G=
NP_001289889.1:n.-4G=