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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_000015.10:g.28111715C>A , CM000677.2:g.28111715C>A
GRCh38
NC_000015.9:g.28356861C>A , CM000677.1:g.28356861C>A
GRCh37
NC_000015.8:g.26030456C>A
NCBI36
NG_016355.1:g.215435G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261609.13:c.*48G>T
MANE Select
ENSP00000261609.8:n.*48G>T
ENST00000650509.1:c.6032G>T
ENSP00000496936.1:n.6032G>T
ENST00000261609.11:c.*48G>T
ENSP00000261609.7:n.*48G>T
ENST00000566635.5:n.1678G>T
NM_004667.5:c.*48G>T
NP_004658.3:n.*48G>T
XM_005268276.3:c.*48G>T
XP_005268333.1:n.*48G>T
XM_005268277.3:c.*48G>T
XP_005268334.1:n.*48G>T
XM_006720726.2:c.*48G>T
XP_006720789.1:n.*48G>T
XM_006720727.2:c.*48G>T
XP_006720790.1:n.*48G>T
XM_011522131.1:c.*48G>T
XP_011520433.1:n.*48G>T
XM_011522132.1:c.*48G>T
XP_011520434.1:n.*48G>T
XM_011522133.1:c.*48G>T
XP_011520435.1:n.*48G>T
XM_011522134.1:c.*48G>T
XP_011520436.1:n.*48G>T
XM_005268276.5:c.*48G>T
XP_005268333.1:n.*48G>T
XM_006720726.3:c.*48G>T
XP_006720789.1:n.*48G>T
XM_006720727.3:c.*48G>T
XP_006720790.1:n.*48G>T
XM_017022695.1:c.*48G>T
XP_016878184.1:n.*48G>T
XM_017022696.1:c.*48G>T
XP_016878185.1:n.*48G>T
XM_017022697.1:c.*48G>T
XP_016878186.1:n.*48G>T
XM_017022698.1:c.*48G>T
XP_016878187.1:n.*48G>T
NM_004667.6:c.*48G>T
MANE Select
NP_004658.3:n.*48G>T