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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_000020.11:g.46725177G= , CM000682.2:g.46725177G=
GRCh38
NC_000020.10:g.45353816G= , CM000682.1:g.45353816G=
GRCh37
NC_000020.9:g.44787223G=
NCBI36
NG_016284.1:g.20538G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000359271.4:c.141G=
MANE Select
ENSP00000352216.2:p.Gln47=
ENST00000359271.3:c.141G=
ENSP00000352216.2:p.Gln47=
ENST00000611837.1:n.293G=
NM_030777.3:c.141G=
NP_110404.1:p.Gln47=
XM_011529060.1:c.204G=
XP_011527362.1:p.Gln68=
XM_011529061.1:c.150G=
XP_011527363.1:p.Gln50=
XM_011529062.1:c.204G=
XP_011527364.1:p.Gln68=
XM_011529063.1:c.204G=
XP_011527365.1:p.Gln68=
XM_011529064.1:c.204G=
XP_011527366.1:p.Gln68=
XM_011529065.1:c.204G=
XP_011527367.1:p.Gln68=
XR_936641.1:n.340G=
XM_011529060.2:c.204G=
XP_011527362.1:p.Gln68=
XM_011529061.2:c.150G=
XP_011527363.1:p.Gln50=
XM_011529062.2:c.204G=
XP_011527364.1:p.Gln68=
XM_011529063.2:c.204G=
XP_011527365.1:p.Gln68=
XM_011529064.2:c.204G=
XP_011527366.1:p.Gln68=
XM_011529065.2:c.204G=
XP_011527367.1:p.Gln68=
XM_017028087.2:c.141G=
XP_016883576.1:p.Gln47=
XR_936641.2:n.327G=
NM_030777.4:c.141G=
MANE Select
NP_110404.1:p.Gln47=