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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.39244472A>G , CM000666.2:g.39244472A>G
GRCh38
NC_000004.11:g.39246092A>G , CM000666.1:g.39246092A>G
GRCh37
NC_000004.10:g.38922487A>G
NCBI36
NG_031813.1:g.67069A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000399820.8:c.2565A>G
MANE Select
ENSP00000382717.3:p.Gln855=
ENST00000399820.7:c.2565A>G
ENSP00000382717.3:p.Gln855=
ENST00000506869.5:c.*2146A>G
ENSP00000424319.1:n.*2146A>G
ENST00000512095.5:n.1563A>G
NM_025132.3:c.2565A>G
NP_079408.3:p.Gln855=
XM_011513724.1:c.2577A>G
XP_011512026.1:p.Gln859=
XM_011513725.1:c.2511A>G
XP_011512027.1:p.Gln837=
XM_011513726.1:c.2097A>G
XP_011512028.1:p.Gln699=
XM_011513727.1:c.2097A>G
XP_011512029.1:p.Gln699=
XM_011513728.1:c.2085A>G
XP_011512030.1:p.Gln695=
XM_011513729.1:c.2577A>G
XP_011512031.1:p.Gln859=
XR_925155.1:n.2641A>G
NM_001317924.1:c.2085A>G
NP_001304853.1:p.Gln695=
XM_011513725.2:c.2511A>G
XP_011512027.1:p.Gln837=
XM_011513726.3:c.2097A>G
XP_011512028.1:p.Gln699=
XM_017008501.1:c.2085A>G
XP_016863990.1:p.Gln695=
XR_001741306.1:n.2641A>G
XR_001741307.1:n.2629A>G
XR_001741308.1:n.2641A>G
XR_001741309.1:n.2629A>G
XR_001741310.1:n.2629A>G
XR_001741311.2:n.2478A>G
NM_025132.4:c.2565A>G
MANE Select
NP_079408.3:p.Gln855=
NM_001317924.2:c.2085A>G
NP_001304853.1:p.Gln695=