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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.96786486C= , CM000667.2:g.96786486C=
GRCh38
NC_000005.9:g.96122190C= , CM000667.1:g.96122190C=
GRCh37
NC_000005.8:g.96147946C=
NCBI36
NG_027839.1:g.32659G=
NG_027839.2:g.154498G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000443439.7:c.1743G=
MANE Select
ENSP00000406304.2:p.Leu581=
ENST00000296754.7:c.1743G=
ENSP00000296754.3:p.Leu581=
ENST00000443439.6:c.1743G=
ENSP00000406304.2:p.Leu581=
ENST00000507859.1:n.406G=
ENST00000514604.5:n.167G=
NM_001040458.1:c.1743G=
NP_001035548.1:p.Leu581=
NM_001198541.1:c.1743G=
NP_001185470.1:p.Leu581=
NM_016442.3:c.1743G=
NP_057526.3:p.Leu581=
XM_005272015.3:c.1743G=
XP_005272072.1:p.Leu581=
XM_005272016.3:c.1743G=
XP_005272073.1:p.Leu581=
XM_011543480.1:c.1743G=
XP_011541782.1:p.Leu581=
XM_011543481.1:c.1743G=
XP_011541783.1:p.Leu581=
XM_011543482.1:c.1743G=
XP_011541784.1:p.Leu581=
XM_011543483.1:c.1743G=
XP_011541785.1:p.Leu581=
XM_011543484.1:c.1743G=
XP_011541786.1:p.Leu581=
XM_011543485.1:c.1743G=
XP_011541787.1:p.Leu581=
XM_011543486.1:c.1743G=
XP_011541788.1:p.Leu581=
XM_011543487.1:c.1743G=
XP_011541789.1:p.Leu581=
NM_001040458.2:c.1743G=
NP_001035548.1:p.Leu581=
NM_001198541.2:c.1743G=
NP_001185470.1:p.Leu581=
NM_001349244.1:c.1743G=
NP_001336173.1:p.Leu581=
NM_016442.4:c.1743G=
NP_057526.3:p.Leu581=
XM_005272015.5:c.1743G=
XP_005272072.1:p.Leu581=
XM_005272016.4:c.1743G=
XP_005272073.1:p.Leu581=
XM_011543480.2:c.1743G=
XP_011541782.1:p.Leu581=
XM_011543481.2:c.1743G=
XP_011541783.1:p.Leu581=
XM_011543484.2:c.1743G=
XP_011541786.1:p.Leu581=
XM_011543485.2:c.1743G=
XP_011541787.1:p.Leu581=
XM_011543486.3:c.1743G=
XP_011541788.1:p.Leu581=
XM_017009581.1:c.1743G=
XP_016865070.1:p.Leu581=
XM_017009583.2:c.648G=
XP_016865072.1:p.Leu216=
XM_024446113.1:c.1743G=
XP_024301881.1:p.Leu581=
XR_001742119.2:n.1881G=
NM_001040458.3:c.1743G=
MANE Select
NP_001035548.1:p.Leu581=
NM_001198541.3:c.1743G=
NP_001185470.1:p.Leu581=
NM_001349244.2:c.1743G=
NP_001336173.1:p.Leu581=
NM_016442.5:c.1743G=
NP_057526.3:p.Leu581=