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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_000006.12:g.73600354A>C , CM000668.2:g.73600354A>C
GRCh38
NC_000006.11:g.74310077A>C , CM000668.1:g.74310077A>C
GRCh37
NC_000006.10:g.74366798A>C
NCBI36
NG_008272.1:g.58661T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355773.6:c.1347T>G
MANE Select
ENSP00000348019.5:p.Pro449=
ENST00000355773.5:c.1347T>G
ENSP00000348019.5:p.Pro449=
NM_012434.4:c.1347T>G
NP_036566.1:p.Pro449=
XM_005248710.2:c.1296T>G
XP_005248767.1:p.Pro432=
XM_005248711.1:c.1149T>G
XP_005248768.1:p.Pro383=
XM_011535750.1:c.*5T>G
XP_011534052.1:n.*5T>G
NM_012434.5:c.1347T>G
MANE Select
NP_036566.1:p.Pro449=
NM_001382629.1:c.1116T>G
NP_001369558.1:p.Pro372=
NM_001382630.1:c.1260-5140T>G
NP_001369559.1:n.1260-5140T>G
NM_001382631.1:c.1368T>G
NP_001369560.1:p.Pro456=
NM_001382632.1:c.1260T>G
NP_001369561.1:p.Pro420=
NM_001382633.1:c.1347T>G
NP_001369562.1:p.Pro449=
NM_001382634.1:c.1188T>G
NP_001369563.1:p.Pro396=
NM_001382635.1:c.1344T>G
NP_001369564.1:p.Pro448=
NM_001382636.1:c.1029T>G
NP_001369565.1:p.Pro343=