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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_000008.11:g.132888417G>A , CM000670.2:g.132888417G>A
GRCh38
NC_000008.10:g.133900662G>A , CM000670.1:g.133900662G>A
GRCh37
NC_000008.9:g.133969844G>A
NCBI36
NG_015832.1:g.26458G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000220616.9:c.2610G>A
MANE Select
ENSP00000220616.4:p.Gln870=
ENST00000220616.8:c.2610G>A
ENSP00000220616.4:p.Gln870=
NM_003235.4:c.2610G>A
NP_003226.4:p.Gln870=
XM_005251038.3:c.2610G>A
XP_005251095.1:p.Gln870=
XM_005251040.3:c.2610G>A
XP_005251097.1:p.Gln870=
XM_005251042.3:c.2610G>A
XP_005251099.1:p.Gln870=
XM_005251043.3:c.2610G>A
XP_005251100.1:p.Gln870=
XM_006716622.2:c.2610G>A
XP_006716685.1:p.Gln870=
XM_005251038.4:c.2610G>A
XP_005251095.1:p.Gln870=
XM_005251040.4:c.2610G>A
XP_005251097.1:p.Gln870=
XM_005251042.4:c.2610G>A
XP_005251099.1:p.Gln870=
XM_006716622.3:c.2610G>A
XP_006716685.1:p.Gln870=
XM_017013793.1:c.2610G>A
XP_016869282.1:p.Gln870=
XM_017013794.1:c.2610G>A
XP_016869283.1:p.Gln870=
XM_017013795.1:c.2610G>A
XP_016869284.1:p.Gln870=
XM_017013796.1:c.2610G>A
XP_016869285.1:p.Gln870=
XM_017013797.1:c.2349G>A
XP_016869286.1:p.Gln783=
XM_017013798.1:c.2610G>A
XP_016869287.1:p.Gln870=
XM_017013799.1:c.2610G>A
XP_016869288.1:p.Gln870=
XM_017013800.1:c.2610G>A
XP_016869289.1:p.Gln870=
NM_003235.5:c.2610G>A
MANE Select
NP_003226.4:p.Gln870=