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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_000017.11:g.58692578C>G , CM000679.2:g.58692578C>G
GRCh38
NC_000017.10:g.56769939C>G , CM000679.1:g.56769939C>G
GRCh37
NC_000017.9:g.54124938C>G
NCBI36
NG_023199.1:g.4977C>G , LRG_314:g.4977C>G
NG_047169.1:g.4502G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000461271.6:c.-314C>G
ENSP00000464056.2:n.-314C>G
ENST00000697675.1:n.6C>G
ENST00000337432.8:c.-66C>G
ENSP00000336701.4:n.-66C>G
ENST00000461271.5:c.-314C>G
ENSP00000464056.1:n.-314C>G
ENST00000487921.5:n.3C>G
ENST00000583539.5:c.-66C>G
ENSP00000463121.1:n.-66C>G
NM_002876.3:c.-66C>G
NP_002867.1:n.-66C>G
NM_058216.2:c.-66C>G
NP_478123.1:n.-66C>G
NR_103872.1:n.6C>G
NR_103873.1:n.6C>G
XM_006722001.2:c.-66C>G
XP_006722064.1:n.-66C>G
XM_006722002.2:c.-66C>G
XP_006722065.1:n.-66C>G
XM_006722004.2:c.-314C>G
XP_006722067.1:n.-314C>G
XM_006722005.2:c.-261C>G
XP_006722068.1:n.-261C>G
XR_934513.1:n.8C>G
XR_934514.1:n.8C>G
XM_006722001.4:c.-66C>G
XP_006722064.1:n.-66C>G
XM_006722002.4:c.-66C>G
XP_006722065.1:n.-66C>G
XM_006722004.3:c.-314C>G
XP_006722067.1:n.-314C>G
XM_006722005.3:c.-261C>G
XP_006722068.1:n.-261C>G
XM_017024914.1:c.-314C>G
XP_016880403.1:n.-314C>G
XM_017024917.1:c.-261C>G
XP_016880406.1:n.-261C>G
XR_934513.3:n.439C>G
XR_934514.3:n.439C>G