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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_000005.10:g.90627497T= , CM000667.2:g.90627497T=
GRCh38
NC_000005.9:g.89923314T= , CM000667.1:g.89923314T=
GRCh37
NC_000005.8:g.89959070T=
NCBI36
NG_007083.1:g.73698T=
NG_007083.2:g.103154T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000405460.9:c.959T=
MANE Select
ENSP00000384582.2:p.Leu320=
ENST00000640083.1:n.664T=
ENST00000640109.1:n.1055T=
ENST00000640281.1:n.1018T=
ENST00000405460.6:c.959T=
ENSP00000384582.2:p.Leu320=
NM_032119.3:c.959T=
NP_115495.3:p.Leu320=
NR_003149.1:n.1055T=
XM_011543675.1:c.959T=
XP_011541977.1:p.Leu320=
XM_011543676.1:c.959T=
XP_011541978.1:p.Leu320=
XM_011543678.1:c.959T=
XP_011541980.1:p.Leu320=
XM_011543679.1:c.959T=
XP_011541981.1:p.Leu320=
NM_032119.4:c.959T=
MANE Select
NP_115495.3:p.Leu320=
XM_017009963.2:c.959T=
XP_016865452.1:p.Leu320=
XM_017009964.2:c.959T=
XP_016865453.1:p.Leu320=
XM_017009965.1:c.956T=
XP_016865454.1:p.Leu319=
XM_017009966.2:c.959T=
XP_016865455.1:p.Leu320=
XM_017009967.1:c.863T=
XP_016865456.1:p.Leu288=
XM_017009968.2:c.959T=
XP_016865457.1:p.Leu320=
XM_017009969.2:c.959T=
XP_016865458.1:p.Leu320=
XM_017009970.2:c.959T=
XP_016865459.1:p.Leu320=
XM_017009971.2:c.959T=
XP_016865460.1:p.Leu320=
XM_017009974.2:c.959T=
XP_016865463.1:p.Leu320=
NR_003149.2:n.1058T=