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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.13615634G>T , CM000674.2:g.13615634G>T
GRCh38
NC_000012.11:g.13768568G>T , CM000674.1:g.13768568G>T
GRCh37
NC_000012.10:g.13659835G>T
NCBI36
NG_031854.1:g.369455C>A
NG_031854.2:g.371379C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000609686.4:c.1359C>A
MANE Select
ENSP00000477455.1:p.Ile453=
ENST00000630791.2:c.1359C>A
ENSP00000486677.2:p.Ile453=
ENST00000609686.3:c.1359C>A
ENSP00000477455.1:p.Ile453=
NM_000834.3:c.1359C>A
NP_000825.2:p.Ile453=
XM_011520628.1:c.1359C>A
XP_011518930.1:p.Ile453=
XM_011520629.1:c.1359C>A
XP_011518931.1:p.Ile453=
XM_011520630.1:c.1359C>A
XP_011518932.1:p.Ile453=
XR_931372.1:n.307+408G>T
XR_931373.1:n.447+408G>T
XR_931374.1:n.246+408G>T
NM_000834.4:c.1359C>A
NP_000825.2:p.Ile453=
XM_011520628.2:c.1359C>A
XP_011518930.1:p.Ile453=
XM_011520629.2:c.1359C>A
XP_011518931.1:p.Ile453=
XM_017019219.2:c.1359C>A
XP_016874708.1:p.Ile453=
XR_001749013.1:n.728+408G>T
XR_931372.2:n.444+408G>T
XR_931373.2:n.586+408G>T
NM_000834.5:c.1359C>A
MANE Select
NP_000825.2:p.Ile453=