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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_000023.11:g.108575954A>T , CM000685.2:g.108575954A>T
GRCh38
NC_000023.10:g.107819184A>T , CM000685.1:g.107819184A>T
GRCh37
NC_000023.9:g.107705840A>T
NCBI36
NG_011977.1:g.141031A>T
NG_011977.2:g.141031A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000328300.11:c.591A>T
MANE Select
ENSP00000331902.7:p.Pro197=
ENST00000361603.7:c.591A>T
ENSP00000354505.2:p.Pro197=
ENST00000328300.10:c.591A>T
ENSP00000331902.6:p.Pro197=
ENST00000361603.6:c.591A>T
ENSP00000354505.2:p.Pro197=
NM_000495.4:c.591A>T
NP_000486.1:p.Pro197=
NM_033380.2:c.591A>T
NP_203699.1:p.Pro197=
XM_005262070.2:c.591A>T
XP_005262127.1:p.Pro197=
XM_005262072.3:c.591A>T
XP_005262129.1:p.Pro197=
XM_006724616.2:c.591A>T
XP_006724679.1:p.Pro197=
XM_011530849.1:c.267A>T
XP_011529151.1:p.Pro89=
XM_011530850.1:c.591A>T
XP_011529152.1:p.Pro197=
XM_011530849.2:c.606A>T
XP_011529151.2:p.Pro202=
XM_017029259.2:c.606A>T
XP_016884748.1:p.Pro202=
XM_017029260.1:c.606A>T
XP_016884749.1:p.Pro202=
XM_017029261.1:c.606A>T
XP_016884750.1:p.Pro202=
XM_017029262.2:c.606A>T
XP_016884751.1:p.Pro202=
NM_000495.5:c.591A>T
NP_000486.1:p.Pro197=
NM_033380.3:c.591A>T
MANE Select
NP_203699.1:p.Pro197=