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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_000012.12:g.13562386G>T , CM000674.2:g.13562386G>T
GRCh38
NC_000012.11:g.13715320G>T , CM000674.1:g.13715320G>T
GRCh37
NC_000012.10:g.13606587G>T
NCBI36
NG_031854.1:g.422703C>A
NG_031854.2:g.424627C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000609686.4:c.*397C>A
MANE Select
ENSP00000477455.1:n.*397C>A
ENST00000637214.1:c.69+46217C>A
ENSP00000489997.1:n.69+46217C>A
ENST00000609686.3:c.*397C>A
ENSP00000477455.1:n.*397C>A
NM_000834.3:c.*397C>A
NP_000825.2:n.*397C>A
XM_005253351.2:c.*397C>A
XP_005253408.1:n.*397C>A
XM_011520628.1:c.*397C>A
XP_011518930.1:n.*397C>A
XM_011520629.1:c.*397C>A
XP_011518931.1:n.*397C>A
XM_011520630.1:c.*397C>A
XP_011518932.1:n.*397C>A
NM_000834.4:c.*397C>A
NP_000825.2:n.*397C>A
XM_005253351.3:c.*397C>A
XP_005253408.1:n.*397C>A
XM_011520628.2:c.*397C>A
XP_011518930.1:n.*397C>A
XM_011520629.2:c.*397C>A
XP_011518931.1:n.*397C>A
XM_017019219.2:c.*397C>A
XP_016874708.1:n.*397C>A
NM_000834.5:c.*397C>A
MANE Select
NP_000825.2:n.*397C>A