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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.40819467G= , CM000663.2:g.40819467G=
GRCh38
NC_000001.10:g.41285139G= , CM000663.1:g.41285139G=
GRCh37
NC_000001.9:g.41057726G=
NCBI36
NG_008139.1:g.40456G=
NG_008139.2:g.40456G=
NG_008139.3:g.40681G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000347132.10:c.829G=
MANE Select
ENSP00000262916.6:p.Gly277=
ENST00000347132.9:c.829G=
ENSP00000262916.6:p.Gly277=
ENST00000443478.3:c.515G=
ENST00000506017.1:n.148G=
ENST00000509682.6:c.829G=
ENSP00000423756.2:p.Gly277=
NM_004700.3:c.829G=
NP_004691.2:p.Gly277=
NM_172163.2:c.829G=
NP_751895.1:p.Gly277=
XM_011542417.1:c.829G=
XP_011540719.1:p.Gly277=
XM_011542418.1:c.829G=
XP_011540720.1:p.Gly277=
XM_011542419.1:c.829G=
XP_011540721.1:p.Gly277=
XM_011542420.1:c.829G=
XP_011540722.1:p.Gly277=
XR_946798.1:n.835G=
XR_946799.1:n.835G=
XR_946800.1:n.835G=
XM_017002792.1:c.-189G=
XP_016858281.1:n.-189G=
NM_004700.4:c.829G=
MANE Select
NP_004691.2:p.Gly277=
NM_172163.3:c.829G=
NP_751895.1:p.Gly277=