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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_000014.9:g.94378440G= , CM000676.2:g.94378440G=
GRCh38
NC_000014.8:g.94844777G= , CM000676.1:g.94844777G=
GRCh37
NC_000014.7:g.93914530G=
NCBI36
NG_008290.1:g.17253C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000393087.9:c.*9C=
MANE Select
ENSP00000376802.4:n.*9C=
ENST00000636712.1:c.*9C=
ENSP00000490054.1:n.*9C=
ENST00000355814.8:c.*9C=
ENSP00000348068.4:n.*9C=
ENST00000393087.8:c.*9C=
ENSP00000376802.4:n.*9C=
ENST00000393088.8:c.*9C=
ENSP00000376803.4:n.*9C=
ENST00000404814.8:c.*9C=
ENSP00000385960.4:n.*9C=
ENST00000437397.5:c.*9C=
ENSP00000408474.1:n.*9C=
ENST00000440909.5:c.*9C=
ENSP00000390299.1:n.*9C=
ENST00000448921.5:c.*9C=
ENSP00000416066.1:n.*9C=
ENST00000489769.1:c.*565C=
ENSP00000451525.1:n.*565C=
NM_000295.4:c.*9C=
NP_000286.3:n.*9C=
NM_001002235.2:c.*9C=
NP_001002235.1:n.*9C=
NM_001002236.2:c.*9C=
NP_001002236.1:n.*9C=
NM_001127700.1:c.*9C=
NP_001121172.1:n.*9C=
NM_001127701.1:c.*9C=
NP_001121173.1:n.*9C=
NM_001127702.1:c.*9C=
NP_001121174.1:n.*9C=
NM_001127703.1:c.*9C=
NP_001121175.1:n.*9C=
NM_001127704.1:c.*9C=
NP_001121176.1:n.*9C=
NM_001127705.1:c.*9C=
NP_001121177.1:n.*9C=
NM_001127706.1:c.*9C=
NP_001121178.1:n.*9C=
NM_001127707.1:c.*9C=
NP_001121179.1:n.*9C=
XM_017021370.1:c.*9C=
XP_016876859.1:n.*9C=
NM_000295.5:c.*9C=
MANE Select
NP_000286.3:n.*9C=
NM_001002235.3:c.*9C=
NP_001002235.1:n.*9C=
NM_001002236.3:c.*9C=
NP_001002236.1:n.*9C=
NM_001127700.2:c.*9C=
NP_001121172.1:n.*9C=
NM_001127701.2:c.*9C=
NP_001121173.1:n.*9C=
NM_001127702.2:c.*9C=
NP_001121174.1:n.*9C=
NM_001127703.2:c.*9C=
NP_001121175.1:n.*9C=
NM_001127704.2:c.*9C=
NP_001121176.1:n.*9C=
NM_001127705.2:c.*9C=
NP_001121177.1:n.*9C=
NM_001127706.2:c.*9C=
NP_001121178.1:n.*9C=
NM_001127707.2:c.*9C=
NP_001121179.1:n.*9C=