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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_000019.10:g.38440747C= , CM000681.2:g.38440747C=
GRCh38
NC_000019.9:g.38931387C= , CM000681.1:g.38931387C=
GRCh37
NC_000019.8:g.43623227C=
NCBI36
NG_008866.1:g.12048C= , LRG_766:g.12048C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000599547.6:c.48C=
ENSP00000471601.2:p.Asp16=
ENST00000359596.8:c.48C=
MANE Select
ENSP00000352608.2:p.Asp16=
ENST00000355481.8:c.48C=
ENSP00000347667.3:p.Asp16=
ENST00000359596.7:c.48C=
ENSP00000352608.2:p.Asp16=
ENST00000360985.7:c.48C=
ENSP00000354254.4:p.Asp16=
NM_000540.2:c.48C= , LRG_766t1:c.48C=
NP_000531.2:p.Asp16=
NM_001042723.1:c.48C=
NP_001036188.1:p.Asp16=
XM_006723317.1:c.48C=
XP_006723380.1:p.Asp16=
XM_006723319.1:c.48C=
XP_006723382.1:p.Asp16=
XM_011527204.1:c.48C=
XP_011525506.1:p.Asp16=
XM_011527205.1:c.48C=
XP_011525507.1:p.Asp16=
XM_006723317.2:c.48C=
XP_006723380.1:p.Asp16=
XM_006723319.2:c.48C=
XP_006723382.1:p.Asp16=
XM_011527205.2:c.48C=
XP_011525507.1:p.Asp16=
XR_001753735.1:n.131C=
NM_000540.3:c.48C=
MANE Select
NP_000531.2:p.Asp16=
NM_001042723.2:c.48C=
NP_001036188.1:p.Asp16=