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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.186284227A= , CM000666.2:g.186284227A=
GRCh38
NC_000004.11:g.187205381A= , CM000666.1:g.187205381A=
GRCh37
NC_000004.10:g.187442375A=
NCBI36
NG_008051.1:g.23264A= , LRG_583:g.23264A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1271A=
MANE Select
ENSP00000384957.2:p.Gln424=
ENST00000264692.8:c.1109A=
ENSP00000264692.5:p.Gln370=
ENST00000403665.6:c.1271A=
ENSP00000384957.2:p.Gln424=
NM_000128.3:c.1271A= , LRG_583t1:c.1271A=
NP_000119.1:p.Gln424=
XM_005262821.2:c.1274A=
XP_005262878.1:p.Gln425=
XM_005262822.2:c.1274A=
XP_005262879.1:p.Gln425=
XM_005262823.2:c.1004A=
XP_005262880.1:p.Gln335=
XM_005262824.1:c.1274A=
XP_005262881.1:p.Gln425=
XM_006714137.1:c.1226A=
XP_006714200.1:p.Gln409=
XR_938706.1:n.1679A=
XR_938707.1:n.1679A=
XM_005262821.4:c.1274A=
XP_005262878.1:p.Gln425=
XM_005262822.4:c.1274A=
XP_005262879.1:p.Gln425=
XM_005262823.4:c.1004A=
XP_005262880.1:p.Gln335=
XM_006714137.3:c.1226A=
XP_006714200.1:p.Gln409=
XR_001741172.2:n.1745A=
NM_000128.4:c.1271A=
MANE Select
NP_000119.1:p.Gln424=