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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.186284164T= , CM000666.2:g.186284164T=
GRCh38
NC_000004.11:g.187205318T= , CM000666.1:g.187205318T=
GRCh37
NC_000004.10:g.187442312T=
NCBI36
NG_008051.1:g.23201T= , LRG_583:g.23201T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1208T=
MANE Select
ENSP00000384957.2:p.Val403=
ENST00000264692.8:c.1046T=
ENSP00000264692.5:p.Val349=
ENST00000403665.6:c.1208T=
ENSP00000384957.2:p.Val403=
NM_000128.3:c.1208T= , LRG_583t1:c.1208T=
NP_000119.1:p.Val403=
XM_005262821.2:c.1211T=
XP_005262878.1:p.Val404=
XM_005262822.2:c.1211T=
XP_005262879.1:p.Val404=
XM_005262823.2:c.941T=
XP_005262880.1:p.Val314=
XM_005262824.1:c.1211T=
XP_005262881.1:p.Val404=
XM_006714137.1:c.1163T=
XP_006714200.1:p.Val388=
XR_938706.1:n.1616T=
XR_938707.1:n.1616T=
XM_005262821.4:c.1211T=
XP_005262878.1:p.Val404=
XM_005262822.4:c.1211T=
XP_005262879.1:p.Val404=
XM_005262823.4:c.941T=
XP_005262880.1:p.Val314=
XM_006714137.3:c.1163T=
XP_006714200.1:p.Val388=
XM_017007884.2:c.*2180T=
XP_016863373.1:n.*2180T=
XM_017007885.2:c.*76T=
XP_016863374.1:n.*76T=
XR_001741172.2:n.1682T=
NM_000128.4:c.1208T=
MANE Select
NP_000119.1:p.Val403=