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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.186284133G= , CM000666.2:g.186284133G=
GRCh38
NC_000004.11:g.187205287G= , CM000666.1:g.187205287G=
GRCh37
NC_000004.10:g.187442281G=
NCBI36
NG_008051.1:g.23170G= , LRG_583:g.23170G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1177G=
MANE Select
ENSP00000384957.2:p.Ala393=
ENST00000264692.8:c.1015G=
ENSP00000264692.5:p.Ala339=
ENST00000403665.6:c.1177G=
ENSP00000384957.2:p.Ala393=
NM_000128.3:c.1177G= , LRG_583t1:c.1177G=
NP_000119.1:p.Ala393=
XM_005262821.2:c.1180G=
XP_005262878.1:p.Ala394=
XM_005262822.2:c.1180G=
XP_005262879.1:p.Ala394=
XM_005262823.2:c.910G=
XP_005262880.1:p.Ala304=
XM_005262824.1:c.1180G=
XP_005262881.1:p.Ala394=
XM_006714137.1:c.1132G=
XP_006714200.1:p.Ala378=
XR_938706.1:n.1585G=
XR_938707.1:n.1585G=
XM_005262821.4:c.1180G=
XP_005262878.1:p.Ala394=
XM_005262822.4:c.1180G=
XP_005262879.1:p.Ala394=
XM_005262823.4:c.910G=
XP_005262880.1:p.Ala304=
XM_006714137.3:c.1132G=
XP_006714200.1:p.Ala378=
XM_017007884.2:c.*2149G=
XP_016863373.1:n.*2149G=
XM_017007885.2:c.*45G=
XP_016863374.1:n.*45G=
XR_001741172.2:n.1651G=
NM_000128.4:c.1177G=
MANE Select
NP_000119.1:p.Ala393=