WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating causes of 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.
We are investigating causes of 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_000017.11:g.44375045C>A , CM000679.2:g.44375045C>A | GRCh38 |
| NC_000017.10:g.42452413C>A , CM000679.1:g.42452413C>A | GRCh37 |
| NC_000017.9:g.39807939C>A | NCBI36 |
| NG_008331.1:g.19461G>T , LRG_479:g.19461G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.2794G>T MANE Select | ENSP00000262407.5:p.Ala932Ser | |
| ENST00000648408.1:c.2225G>T | ||
| ENST00000262407.5:c.2794G>T | ENSP00000262407.5:p.Ala932Ser | |
| ENST00000587295.5:c.253+788G>T | ||
| ENST00000592462.5:n.2068G>T | ||
| NM_000419.3:c.2794G>T , LRG_479t1:c.2794G>T | NP_000410.2:p.Ala932Ser | |
| XM_011524749.1:c.2794G>T | XP_011523051.1:p.Ala932Ser | |
| XM_011524750.1:c.2794G>T | XP_011523052.1:p.Ala932Ser | |
| NM_000419.4:c.2794G>T | NP_000410.2:p.Ala932Ser | |
| NM_000419.5:c.2794G>T MANE Select | NP_000410.2:p.Ala932Ser |