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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_000024.10:g.12915726C>A , CM000686.2:g.12915726C>A
GRCh38
NC_000024.9:g.15027638C>A , CM000686.1:g.15027638C>A
GRCh37
NC_000024.8:g.13537032C>A
NCBI36
NG_012831.1:g.16620C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000336079.8:c.1116C>A
MANE Select
ENSP00000336725.3:p.Gly372=
ENST00000336079.7:c.1116C>A
ENSP00000336725.3:p.Gly372=
ENST00000360160.8:c.1116C>A
ENSP00000353284.4:p.Gly372=
ENST00000495478.1:n.231C>A
NM_001122665.2:c.1116C>A
NP_001116137.1:p.Gly372=
NM_001302552.1:c.1107C>A
NP_001289481.1:p.Gly369=
NM_004660.4:c.1116C>A
NP_004651.2:p.Gly372=
XM_006724878.1:c.1116C>A
XP_006724941.1:p.Gly372=
XM_011531471.1:c.1116C>A
XP_011529773.1:p.Gly372=
NM_001122665.3:c.1116C>A
NP_001116137.1:p.Gly372=
NM_001302552.2:c.1107C>A
NP_001289481.1:p.Gly369=
NM_001324195.1:c.1116C>A
NP_001311124.1:p.Gly372=
NR_136716.1:n.1585C>A
NR_136717.1:n.1347C>A
NR_136718.1:n.1665C>A
NR_136719.1:n.1455C>A
NR_136720.1:n.1585C>A
NR_136721.1:n.1178C>A
NR_136722.1:n.1262C>A
NR_136723.1:n.1580C>A
NR_136724.1:n.1500C>A
XR_001756014.2:n.1220C>A
NM_004660.5:c.1116C>A
MANE Select
NP_004651.2:p.Gly372=
NM_001302552.3:c.1107C>A
NP_001289481.1:p.Gly369=
NM_001324195.2:c.1116C>A
NP_001311124.1:p.Gly372=
NR_136716.2:n.1503C>A
NR_136717.2:n.1265C>A
NR_136718.2:n.1583C>A
NR_136719.2:n.1373C>A
NR_136720.2:n.1503C>A
NR_136721.2:n.1168C>A