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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_000003.12:g.120650871A= , CM000665.2:g.120650871A=
GRCh38
NC_000003.11:g.120369718A= , CM000665.1:g.120369718A=
GRCh37
NC_000003.10:g.121852408A=
NCBI36
NG_011957.1:g.36611T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000283871.10:c.343-6T=
MANE Select
ENSP00000283871.5:n.343-6T=
ENST00000283871.9:c.343-6T=
ENSP00000283871.5:n.343-6T=
ENST00000476082.2:c.220-6T=
ENSP00000419560.2:n.220-6T=
ENST00000485313.5:n.451-6T=
NM_000187.3:c.343-6T=
NP_000178.2:n.343-6T=
XM_005247412.1:c.343-6T=
XP_005247469.1:n.343-6T=
XM_005247413.1:c.343-6T=
XP_005247470.1:n.343-6T=
XM_005247414.3:c.343-6T=
XP_005247471.1:n.343-6T=
XM_011512746.1:c.343-6T=
XP_011511048.1:n.343-6T=
XM_005247412.2:c.343-6T=
XP_005247469.1:n.343-6T=
XM_005247413.2:c.343-6T=
XP_005247470.1:n.343-6T=
XM_005247414.5:c.343-6T=
XP_005247471.1:n.343-6T=
XM_011512746.2:c.343-6T=
XP_011511048.1:n.343-6T=
XM_017006277.2:c.-81-6T=
XP_016861766.1:n.-81-6T=
NM_000187.4:c.343-6T=
MANE Select
NP_000178.2:n.343-6T=