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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_000009.12:g.104828972T= , CM000671.2:g.104828972T=
GRCh38
NC_000009.11:g.107591253T= , CM000671.1:g.107591253T=
GRCh37
NC_000009.10:g.106631074T=
NCBI36
NG_007981.1:g.104184A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000374736.8:c.2059A=
MANE Select
ENSP00000363868.3:p.Ile687=
ENST00000678995.1:c.2059A=
ENSP00000504612.1:p.Ile687=
ENST00000374736.7:c.2059A=
ENSP00000363868.3:p.Ile687=
ENST00000494467.1:n.232A=
NM_005502.3:c.2059A=
NP_005493.2:p.Ile687=
XM_005251773.1:c.2059A=
XP_005251830.1:p.Ile687=
XM_005251776.1:c.1879A=
XP_005251833.1:p.Ile627=
XM_011518339.1:c.2134A=
XP_011516641.1:p.Ile712=
XM_011518340.1:c.2134A=
XP_011516642.1:p.Ile712=
XM_011518341.1:c.2134A=
XP_011516643.1:p.Ile712=
XM_011518342.1:c.1696A=
XP_011516644.1:p.Ile566=
XM_011518343.1:c.2134A=
XP_011516645.1:p.Ile712=
XM_011518344.1:c.2134A=
XP_011516646.1:p.Ile712=
XM_005251773.3:c.2059A=
XP_005251830.1:p.Ile687=
XM_005251776.3:c.1879A=
XP_005251833.1:p.Ile627=
XM_011518339.3:c.2134A=
XP_011516641.1:p.Ile712=
XM_011518340.3:c.2134A=
XP_011516642.1:p.Ile712=
XM_011518341.3:c.2134A=
XP_011516643.1:p.Ile712=
XM_011518342.3:c.1696A=
XP_011516644.1:p.Ile566=
XM_011518344.2:c.2134A=
XP_011516646.1:p.Ile712=
XM_017014378.2:c.2134A=
XP_016869867.1:p.Ile712=
XM_017014379.2:c.2134A=
XP_016869868.1:p.Ile712=
XM_017014380.2:c.2134A=
XP_016869869.1:p.Ile712=
XM_017014381.2:c.2134A=
XP_016869870.1:p.Ile712=
XM_017014382.2:c.1996A=
XP_016869871.1:p.Ile666=
XR_001746223.1:n.2447A=
NM_005502.4:c.2059A=
MANE Select
NP_005493.2:p.Ile687=