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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.4762709T>C , CM000678.2:g.4762709T>C
GRCh38
NC_000016.9:g.4812710T>C , CM000678.1:g.4812710T>C
GRCh37
NC_000016.8:g.4752711T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000219478.11:c.462A>G
MANE Select
ENSP00000219478.5:p.Gly154=
ENST00000219478.10:c.462A>G
ENSP00000219478.5:p.Gly154=
ENST00000545009.1:c.462A>G
ENSP00000445714.1:p.Gly154=
ENST00000589422.1:c.419A>G
ENSP00000466375.1:p.Asp140Gly
NM_001303450.1:c.462A>G
NP_001290379.1:p.Gly154=
NM_021646.2:c.462A>G
NP_067678.1:p.Gly154=
XM_005255243.2:c.111A>G
XP_005255300.1:p.Gly37=
XM_011522453.1:c.462A>G
XP_011520755.1:p.Gly154=
XM_011522454.1:c.-163A>G
XP_011520756.1:n.-163A>G
NM_021646.3:c.462A>G
NP_067678.1:p.Gly154=
XM_005255243.4:c.111A>G
XP_005255300.1:p.Gly37=
XM_011522453.2:c.462A>G
XP_011520755.1:p.Gly154=
XM_011522454.3:c.-163A>G
XP_011520756.1:n.-163A>G
XM_017023121.2:c.-163A>G
XP_016878610.1:n.-163A>G
NM_001303450.2:c.462A>G
NP_001290379.1:p.Gly154=
NM_021646.4:c.462A>G
MANE Select
NP_067678.1:p.Gly154=