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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.186284122T= , CM000666.2:g.186284122T=
GRCh38
NC_000004.11:g.187205276T= , CM000666.1:g.187205276T=
GRCh37
NC_000004.10:g.187442270T=
NCBI36
NG_008051.1:g.23159T= , LRG_583:g.23159T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1166T=
MANE Select
ENSP00000384957.2:p.Val389=
ENST00000264692.8:c.1004T=
ENSP00000264692.5:p.Val335=
ENST00000403665.6:c.1166T=
ENSP00000384957.2:p.Val389=
NM_000128.3:c.1166T= , LRG_583t1:c.1166T=
NP_000119.1:p.Val389=
XM_005262821.2:c.1169T=
XP_005262878.1:p.Val390=
XM_005262822.2:c.1169T=
XP_005262879.1:p.Val390=
XM_005262823.2:c.899T=
XP_005262880.1:p.Val300=
XM_005262824.1:c.1169T=
XP_005262881.1:p.Val390=
XM_006714137.1:c.1121T=
XP_006714200.1:p.Val374=
XR_938706.1:n.1574T=
XR_938707.1:n.1574T=
XM_005262821.4:c.1169T=
XP_005262878.1:p.Val390=
XM_005262822.4:c.1169T=
XP_005262879.1:p.Val390=
XM_005262823.4:c.899T=
XP_005262880.1:p.Val300=
XM_006714137.3:c.1121T=
XP_006714200.1:p.Val374=
XM_017007884.2:c.*2138T=
XP_016863373.1:n.*2138T=
XM_017007885.2:c.*34T=
XP_016863374.1:n.*34T=
XR_001741172.2:n.1640T=
NM_000128.4:c.1166T=
MANE Select
NP_000119.1:p.Val389=