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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_000006.12:g.80106692G= , CM000668.2:g.80106692G=
GRCh38
NC_000006.11:g.80816409G= , CM000668.1:g.80816409G=
GRCh37
NC_000006.10:g.80873128G=
NCBI36
NG_009775.1:g.5066G=
NG_009775.2:g.5066G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000320393.9:c.-2G=
MANE Select
ENSP00000318351.5:n.-2G=
ENST00000320393.8:c.-2G=
ENSP00000318351.5:n.-2G=
ENST00000356489.9:c.-2G=
ENSP00000348880.5:n.-2G=
ENST00000369760.8:c.-2G=
ENSP00000358775.4:n.-2G=
NM_000056.3:c.-2G=
NP_000047.1:n.-2G=
NM_183050.2:c.-2G=
NP_898871.1:n.-2G=
XM_005248756.3:c.-2G=
XP_005248813.1:n.-2G=
XM_006715542.2:c.-15+9G=
XP_006715605.1:n.-15+9G=
XM_011536023.1:c.-2G=
XP_011534325.1:n.-2G=
XM_011536024.1:c.-2G=
XP_011534326.1:n.-2G=
XM_011536025.1:c.-2G=
XP_011534327.1:n.-2G=
XM_011536027.1:c.-2G=
XP_011534329.1:n.-2G=
NM_000056.4:c.-2G=
NP_000047.1:n.-2G=
NM_001318975.1:c.-15+9G=
NP_001305904.1:n.-15+9G=
NM_183050.3:c.-2G=
NP_898871.1:n.-2G=
NR_134945.1:n.83G=
XM_005248756.5:c.-2G=
XP_005248813.1:n.-2G=
XM_011536023.3:c.-2G=
XP_011534325.1:n.-2G=
XM_011536024.3:c.-2G=
XP_011534326.1:n.-2G=
XM_011536025.3:c.-2G=
XP_011534327.1:n.-2G=
XR_001743546.2:n.29G=
XR_001743547.2:n.29G=
XR_001743548.2:n.29G=
XR_001743549.2:n.29G=
XR_002956292.1:n.29G=
NM_183050.4:c.-2G=
MANE Select
NP_898871.1:n.-2G=
NR_134945.2:n.22G=
NM_000056.5:c.-2G=
NP_000047.1:n.-2G=