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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.241889756T>A , CM000663.2:g.241889756T>A
GRCh38
NC_000001.10:g.242053058T>A , CM000663.1:g.242053058T>A
GRCh37
NC_000001.9:g.240119681T>A
NCBI36
NG_029100.1:g.46566T>A
NG_029100.2:g.46566T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000366548.8:c.*156T>A
MANE Select
ENSP00000355506.3:n.*156T>A
ENST00000348581.9:c.*156T>A
ENSP00000311873.5:n.*156T>A
ENST00000366548.7:c.*156T>A
ENSP00000355506.3:n.*156T>A
ENST00000518741.1:n.152-2768T>A
NM_003686.4:c.*283T>A
NP_003677.4:n.*283T>A
NM_006027.4:c.*156T>A
NP_006018.4:n.*156T>A
NM_130398.3:c.*156T>A
NP_569082.2:n.*156T>A
XM_005273350.2:c.*156T>A
XP_005273407.1:n.*156T>A
XM_006711840.1:c.*156T>A
XP_006711903.1:n.*156T>A
XM_011544321.1:c.*156T>A
XP_011542623.1:n.*156T>A
XM_011544322.1:c.*156T>A
XP_011542624.1:n.*156T>A
XM_011544323.1:c.*156T>A
XP_011542625.1:n.*156T>A
XM_011544324.1:c.*156T>A
XP_011542626.1:n.*156T>A
XM_011544325.1:c.*156T>A
XP_011542627.1:n.*156T>A
XR_949162.1:n.2990+4249T>A
NM_001319224.1:c.*156T>A
NP_001306153.1:n.*156T>A
XM_006711840.2:c.*156T>A
XP_006711903.1:n.*156T>A
XM_011544321.2:c.*156T>A
XP_011542623.1:n.*156T>A
XM_011544323.2:c.*156T>A
XP_011542625.1:n.*156T>A
XM_011544324.2:c.*156T>A
XP_011542626.1:n.*156T>A
XM_011544325.2:c.*156T>A
XP_011542627.1:n.*156T>A
XM_017002793.2:c.*156T>A
XP_016858282.1:n.*156T>A
NM_130398.4:c.*156T>A
MANE Select
NP_569082.2:n.*156T>A
NM_001319224.2:c.*156T>A
NP_001306153.1:n.*156T>A