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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_000004.12:g.186285702G= , CM000666.2:g.186285702G=
GRCh38
NC_000004.11:g.187206856G= , CM000666.1:g.187206856G=
GRCh37
NC_000004.10:g.187443850G=
NCBI36
NG_008051.1:g.24739G= , LRG_583:g.24739G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1369G=
MANE Select
ENSP00000384957.2:p.Asp457=
ENST00000264691.4:c.65G=
ENST00000264692.8:c.1207G=
ENSP00000264692.5:p.Asp403=
ENST00000403665.6:c.1369G=
ENSP00000384957.2:p.Asp457=
NM_000128.3:c.1369G= , LRG_583t1:c.1369G=
NP_000119.1:p.Asp457=
XM_005262821.2:c.1372G=
XP_005262878.1:p.Asp458=
XM_005262822.2:c.1372G=
XP_005262879.1:p.Asp458=
XM_005262823.2:c.1102G=
XP_005262880.1:p.Asp368=
XM_005262824.1:c.1372G=
XP_005262881.1:p.Asp458=
XM_006714137.1:c.1324G=
XP_006714200.1:p.Asp442=
XR_938706.1:n.1777G=
XR_938707.1:n.1777G=
XM_005262821.4:c.1372G=
XP_005262878.1:p.Asp458=
XM_005262822.4:c.1372G=
XP_005262879.1:p.Asp458=
XM_005262823.4:c.1102G=
XP_005262880.1:p.Asp368=
XM_006714137.3:c.1324G=
XP_006714200.1:p.Asp442=
XR_001741172.2:n.1843G=
NM_000128.4:c.1369G=
MANE Select
NP_000119.1:p.Asp457=