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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_000023.11:g.18951177G= , CM000685.2:g.18951177G=
GRCh38
NC_000023.10:g.18969295G= , CM000685.1:g.18969295G=
GRCh37
NC_000023.9:g.18879216G=
NCBI36
NG_016622.1:g.38186C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000379942.5:c.381C=
MANE Select
ENSP00000369274.4:p.Asp127=
ENST00000379942.4:c.381C=
ENSP00000369274.4:p.Asp127=
NM_000292.2:c.381C=
NP_000283.1:p.Asp127=
XM_005274548.3:c.381C=
XP_005274605.1:p.Asp127=
XM_005274550.3:c.381C=
XP_005274607.1:p.Asp127=
XM_006724496.2:c.381C=
XP_006724559.1:p.Asp127=
XM_006724498.2:c.-93+1317C=
XP_006724561.1:n.-93+1317C=
XM_011545537.1:c.381C=
XP_011543839.1:p.Asp127=
XR_950461.1:n.565C=
XM_005274548.5:c.381C=
XP_005274605.1:p.Asp127=
XM_005274550.5:c.381C=
XP_005274607.1:p.Asp127=
XM_006724496.4:c.381C=
XP_006724559.1:p.Asp127=
XM_006724498.4:c.-93+1317C=
XP_006724561.1:n.-93+1317C=
XM_011545537.3:c.381C=
XP_011543839.1:p.Asp127=
XM_017029580.2:c.-461C=
XP_016885069.1:n.-461C=
XR_001755697.2:n.551C=
XR_001755698.2:n.551C=
XR_002958777.1:n.551C=
XR_950461.3:n.551C=
NM_000292.3:c.381C=
MANE Select
NP_000283.1:p.Asp127=