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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_000010.11:g.77791889C>G , CM000672.2:g.77791889C>G
GRCh38
NC_000010.10:g.79551647C>G , CM000672.1:g.79551647C>G
GRCh37
NC_000010.9:g.79221653C>G
NCBI36
NG_011484.1:g.139702G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000372391.7:c.*551G>C
MANE Select
ENSP00000361467.2:n.*551G>C
ENST00000372391.6:c.*551G>C
ENSP00000361467.2:n.*551G>C
ENST00000424842.5:c.3194G>C
ENSP00000394797.1:n.3194G>C
ENST00000475613.6:n.6148G>C
NM_004747.3:c.*551G>C
NP_004738.3:n.*551G>C
XM_005270276.3:c.*551G>C
XP_005270333.1:n.*551G>C
XM_006718056.2:c.*551G>C
XP_006718119.1:n.*551G>C
XM_011540341.1:c.*551G>C
XP_011538643.1:n.*551G>C
XM_011540342.1:c.*551G>C
XP_011538644.1:n.*551G>C
XM_011540343.1:c.*551G>C
XP_011538645.1:n.*551G>C
XM_011540344.1:c.*551G>C
XP_011538646.1:n.*551G>C
XM_011540345.1:c.*551G>C
XP_011538647.1:n.*551G>C
XM_011540347.1:c.*551G>C
XP_011538649.1:n.*551G>C
XM_005270276.4:c.*551G>C
XP_005270333.1:n.*551G>C
XM_006718056.3:c.*551G>C
XP_006718119.1:n.*551G>C
XM_011540341.3:c.*551G>C
XP_011538643.1:n.*551G>C
XM_011540344.2:c.*551G>C
XP_011538646.1:n.*551G>C
XM_011540347.2:c.*551G>C
XP_011538649.1:n.*551G>C
XM_017016913.1:c.*551G>C
XP_016872402.1:n.*551G>C
XM_017016914.1:c.*551G>C
XP_016872403.1:n.*551G>C
XM_017016915.1:c.*551G>C
XP_016872404.1:n.*551G>C
XM_024448250.1:c.*551G>C
XP_024304018.1:n.*551G>C
NM_004747.4:c.*551G>C
MANE Select
NP_004738.3:n.*551G>C