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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.186284232A= , CM000666.2:g.186284232A=
GRCh38
NC_000004.11:g.187205386A= , CM000666.1:g.187205386A=
GRCh37
NC_000004.10:g.187442380A=
NCBI36
NG_008051.1:g.23269A= , LRG_583:g.23269A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1276A=
MANE Select
ENSP00000384957.2:p.Ile426=
ENST00000264692.8:c.1114A=
ENSP00000264692.5:p.Ile372=
ENST00000403665.6:c.1276A=
ENSP00000384957.2:p.Ile426=
NM_000128.3:c.1276A= , LRG_583t1:c.1276A=
NP_000119.1:p.Ile426=
XM_005262821.2:c.1279A=
XP_005262878.1:p.Ile427=
XM_005262822.2:c.1279A=
XP_005262879.1:p.Ile427=
XM_005262823.2:c.1009A=
XP_005262880.1:p.Ile337=
XM_005262824.1:c.1279A=
XP_005262881.1:p.Ile427=
XM_006714137.1:c.1231A=
XP_006714200.1:p.Ile411=
XR_938706.1:n.1684A=
XR_938707.1:n.1684A=
XM_005262821.4:c.1279A=
XP_005262878.1:p.Ile427=
XM_005262822.4:c.1279A=
XP_005262879.1:p.Ile427=
XM_005262823.4:c.1009A=
XP_005262880.1:p.Ile337=
XM_006714137.3:c.1231A=
XP_006714200.1:p.Ile411=
XR_001741172.2:n.1750A=
NM_000128.4:c.1276A=
MANE Select
NP_000119.1:p.Ile426=