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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_000001.11:g.40819464T= , CM000663.2:g.40819464T=
GRCh38
NC_000001.10:g.41285136T= , CM000663.1:g.41285136T=
GRCh37
NC_000001.9:g.41057723T=
NCBI36
NG_008139.1:g.40453T=
NG_008139.2:g.40453T=
NG_008139.3:g.40678T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000347132.10:c.826T=
MANE Select
ENSP00000262916.6:p.Trp276=
ENST00000347132.9:c.826T=
ENSP00000262916.6:p.Trp276=
ENST00000443478.3:c.512T=
ENST00000506017.1:n.145T=
ENST00000509682.6:c.826T=
ENSP00000423756.2:p.Trp276=
NM_004700.3:c.826T=
NP_004691.2:p.Trp276=
NM_172163.2:c.826T=
NP_751895.1:p.Trp276=
XM_011542417.1:c.826T=
XP_011540719.1:p.Trp276=
XM_011542418.1:c.826T=
XP_011540720.1:p.Trp276=
XM_011542419.1:c.826T=
XP_011540721.1:p.Trp276=
XM_011542420.1:c.826T=
XP_011540722.1:p.Trp276=
XR_946798.1:n.832T=
XR_946799.1:n.832T=
XR_946800.1:n.832T=
XM_017002792.1:c.-192T=
XP_016858281.1:n.-192T=
NM_004700.4:c.826T=
MANE Select
NP_004691.2:p.Trp276=
NM_172163.3:c.826T=
NP_751895.1:p.Trp276=