×
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.186284114C= , CM000666.2:g.186284114C=
GRCh38
NC_000004.11:g.187205268C= , CM000666.1:g.187205268C=
GRCh37
NC_000004.10:g.187442262C=
NCBI36
NG_008051.1:g.23151C= , LRG_583:g.23151C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1158C=
MANE Select
ENSP00000384957.2:p.Pro386=
ENST00000264692.8:c.996C=
ENSP00000264692.5:p.Pro332=
ENST00000403665.6:c.1158C=
ENSP00000384957.2:p.Pro386=
NM_000128.3:c.1158C= , LRG_583t1:c.1158C=
NP_000119.1:p.Pro386=
XM_005262821.2:c.1161C=
XP_005262878.1:p.Pro387=
XM_005262822.2:c.1161C=
XP_005262879.1:p.Pro387=
XM_005262823.2:c.891C=
XP_005262880.1:p.Pro297=
XM_005262824.1:c.1161C=
XP_005262881.1:p.Pro387=
XM_006714137.1:c.1113C=
XP_006714200.1:p.Pro371=
XR_938706.1:n.1566C=
XR_938707.1:n.1566C=
XM_005262821.4:c.1161C=
XP_005262878.1:p.Pro387=
XM_005262822.4:c.1161C=
XP_005262879.1:p.Pro387=
XM_005262823.4:c.891C=
XP_005262880.1:p.Pro297=
XM_006714137.3:c.1113C=
XP_006714200.1:p.Pro371=
XM_017007884.2:c.*2130C=
XP_016863373.1:n.*2130C=
XM_017007885.2:c.*26C=
XP_016863374.1:n.*26C=
XR_001741172.2:n.1632C=
NM_000128.4:c.1158C=
MANE Select
NP_000119.1:p.Pro386=