×
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.46725180G= , CM000682.2:g.46725180G=
GRCh38
NC_000020.10:g.45353819G= , CM000682.1:g.45353819G=
GRCh37
NC_000020.9:g.44787226G=
NCBI36
NG_016284.1:g.20541G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000359271.4:c.144G=
MANE Select
ENSP00000352216.2:p.Glu48=
ENST00000359271.3:c.144G=
ENSP00000352216.2:p.Glu48=
ENST00000611837.1:n.296G=
NM_030777.3:c.144G=
NP_110404.1:p.Glu48=
XM_011529060.1:c.207G=
XP_011527362.1:p.Glu69=
XM_011529061.1:c.153G=
XP_011527363.1:p.Glu51=
XM_011529062.1:c.207G=
XP_011527364.1:p.Glu69=
XM_011529063.1:c.207G=
XP_011527365.1:p.Glu69=
XM_011529064.1:c.207G=
XP_011527366.1:p.Glu69=
XM_011529065.1:c.207G=
XP_011527367.1:p.Glu69=
XR_936641.1:n.343G=
XM_011529060.2:c.207G=
XP_011527362.1:p.Glu69=
XM_011529061.2:c.153G=
XP_011527363.1:p.Glu51=
XM_011529062.2:c.207G=
XP_011527364.1:p.Glu69=
XM_011529063.2:c.207G=
XP_011527365.1:p.Glu69=
XM_011529064.2:c.207G=
XP_011527366.1:p.Glu69=
XM_011529065.2:c.207G=
XP_011527367.1:p.Glu69=
XM_017028087.2:c.144G=
XP_016883576.1:p.Glu48=
XR_936641.2:n.330G=
NM_030777.4:c.144G=
MANE Select
NP_110404.1:p.Glu48=