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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.120650863G>T , CM000665.2:g.120650863G>T
GRCh38
NC_000003.11:g.120369710G>T , CM000665.1:g.120369710G>T
GRCh37
NC_000003.10:g.121852400G>T
NCBI36
NG_011957.1:g.36619C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000283871.10:c.345C>A
MANE Select
ENSP00000283871.5:p.Gly115=
ENST00000283871.9:c.345C>A
ENSP00000283871.5:p.Gly115=
ENST00000476082.2:c.222C>A
ENSP00000419560.2:p.Gly74=
ENST00000485313.5:n.453C>A
NM_000187.3:c.345C>A
NP_000178.2:p.Gly115=
XM_005247412.1:c.345C>A
XP_005247469.1:p.Gly115=
XM_005247413.1:c.345C>A
XP_005247470.1:p.Gly115=
XM_005247414.3:c.345C>A
XP_005247471.1:p.Gly115=
XM_011512746.1:c.345C>A
XP_011511048.1:p.Gly115=
XM_005247412.2:c.345C>A
XP_005247469.1:p.Gly115=
XM_005247413.2:c.345C>A
XP_005247470.1:p.Gly115=
XM_005247414.5:c.345C>A
XP_005247471.1:p.Gly115=
XM_011512746.2:c.345C>A
XP_011511048.1:p.Gly115=
XM_017006277.2:c.-79C>A
XP_016861766.1:n.-79C>A
NM_000187.4:c.345C>A
MANE Select
NP_000178.2:p.Gly115=