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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_000004.12:g.5711561C= , CM000666.2:g.5711561C=
GRCh38
NC_000004.11:g.5713288C= , CM000666.1:g.5713288C=
GRCh37
NC_000004.10:g.5764189C=
NCBI36
NG_008843.1:g.5365C=
NG_015821.1:g.2988G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000264956.11:c.174+7C=
MANE Select
ENSP00000264956.6:n.174+7C=
ENST00000264956.10:c.174+7C=
ENSP00000264956.6:n.174+7C=
ENST00000509451.1:c.174+7C=
ENSP00000426774.1:n.174+7C=
NM_001306090.1:c.174+7C=
NP_001293019.1:n.174+7C=
NM_001306092.1:c.174+7C=
NP_001293021.1:n.174+7C=
NM_153717.2:c.174+7C=
NP_714928.1:n.174+7C=
XM_006713865.2:c.174+7C=
XP_006713928.1:n.174+7C=
XM_006713866.2:c.174+7C=
XP_006713929.1:n.174+7C=
XM_011513419.1:c.174+7C=
XP_011511721.1:n.174+7C=
XR_427473.2:n.364+7C=
XR_427475.2:n.364+7C=
XR_427476.2:n.364+7C=
XR_924920.1:n.364+7C=
XR_924921.1:n.364+7C=
XR_924922.1:n.364+7C=
XR_924923.1:n.364+7C=
XR_924924.1:n.364+7C=
XR_924925.1:n.364+7C=
XR_924926.1:n.364+7C=
XR_924927.1:n.364+7C=
XR_924928.1:n.366+7C=
XM_006713865.3:c.174+7C=
XP_006713928.1:n.174+7C=
XM_006713866.3:c.174+7C=
XP_006713929.1:n.174+7C=
XM_011513419.2:c.174+7C=
XP_011511721.1:n.174+7C=
XM_017007883.2:c.174+7C=
XP_016863372.1:n.174+7C=
XR_001741164.1:n.354+7C=
XR_001741165.1:n.354+7C=
XR_001741166.1:n.354+7C=
XR_001741167.1:n.354+7C=
XR_001741168.1:n.354+7C=
XR_001741169.2:n.356+7C=
XR_001741170.1:n.356+7C=
XR_427473.3:n.354+7C=
XR_427475.3:n.354+7C=
XR_427476.3:n.354+7C=
XR_924920.2:n.354+7C=
XR_924921.2:n.354+7C=
XR_924922.2:n.354+7C=
XR_924924.2:n.354+7C=
XR_924925.2:n.354+7C=
XR_924926.2:n.354+7C=
NM_153717.3:c.174+7C=
MANE Select
NP_714928.1:n.174+7C=
NM_001306090.2:c.174+7C=
NP_001293019.1:n.174+7C=
NM_001306092.2:c.174+7C=
NP_001293021.1:n.174+7C=