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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_000008.11:g.117172806T>A , CM000670.2:g.117172806T>A
GRCh38
NC_000008.10:g.118185045T>A , CM000670.1:g.118185045T>A
GRCh37
NC_000008.9:g.118254226T>A
NCBI36
NG_016991.1:g.227534T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000456015.7:c.*125T>A
MANE Select
ENSP00000415011.2:n.*125T>A
ENST00000427715.2:c.*125T>A
ENSP00000407505.2:n.*125T>A
ENST00000456015.6:c.1235T>A
ENSP00000415011.2:n.1235T>A
ENST00000519688.5:c.*125T>A
ENSP00000431069.1:n.*125T>A
NM_001172811.1:c.*125T>A
NP_001166282.1:n.*125T>A
NM_001172813.1:c.*125T>A
NP_001166284.1:n.*125T>A
NM_001172814.1:c.*125T>A
NP_001166285.1:n.*125T>A
NM_001172815.1:c.*125T>A
NP_001166286.1:n.*125T>A
NM_173851.2:c.*125T>A
NP_776250.2:n.*125T>A
XM_011516881.1:c.*125T>A
XP_011515183.1:n.*125T>A
XM_011516882.1:c.*125T>A
XP_011515184.1:n.*125T>A
XR_928569.1:n.890-61A>T
XR_928570.1:n.890-61A>T
NM_001172815.2:c.*125T>A
NP_001166286.1:n.*125T>A
XM_024447083.1:c.*125T>A
XP_024302851.1:n.*125T>A
XR_928569.2:n.843-61A>T
XR_928570.2:n.843-61A>T
NM_001172811.2:c.*125T>A
NP_001166282.1:n.*125T>A
NM_001172813.2:c.*125T>A
NP_001166284.1:n.*125T>A
NM_001172814.2:c.*125T>A
NP_001166285.1:n.*125T>A
NM_173851.3:c.*125T>A
MANE Select
NP_776250.2:n.*125T>A
NM_001172815.3:c.*125T>A
NP_001166286.1:n.*125T>A