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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_000016.10:g.4762609T>G , CM000678.2:g.4762609T>G
GRCh38
NC_000016.9:g.4812610T>G , CM000678.1:g.4812610T>G
GRCh37
NC_000016.8:g.4752611T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000219478.11:c.562A>C
MANE Select
ENSP00000219478.5:p.Arg188=
ENST00000219478.10:c.562A>C
ENSP00000219478.5:p.Arg188=
ENST00000545009.1:c.562A>C
ENSP00000445714.1:p.Arg188=
ENST00000589422.1:c.*90A>C
ENSP00000466375.1:n.*90A>C
NM_001303450.1:c.562A>C
NP_001290379.1:p.Arg188=
NM_021646.2:c.562A>C
NP_067678.1:p.Arg188=
XM_005255243.2:c.211A>C
XP_005255300.1:p.Arg71=
XM_011522453.1:c.562A>C
XP_011520755.1:p.Arg188=
XM_011522454.1:c.-63A>C
XP_011520756.1:n.-63A>C
NM_021646.3:c.562A>C
NP_067678.1:p.Arg188=
XM_005255243.4:c.211A>C
XP_005255300.1:p.Arg71=
XM_011522453.2:c.562A>C
XP_011520755.1:p.Arg188=
XM_011522454.3:c.-63A>C
XP_011520756.1:n.-63A>C
XM_017023121.2:c.-63A>C
XP_016878610.1:n.-63A>C
NM_001303450.2:c.562A>C
NP_001290379.1:p.Arg188=
NM_021646.4:c.562A>C
MANE Select
NP_067678.1:p.Arg188=