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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_000003.12:g.52403734C= , CM000665.2:g.52403734C=
GRCh38
NC_000003.11:g.52437750C= , CM000665.1:g.52437750C=
GRCh37
NC_000003.10:g.52412790C=
NCBI36
NG_031859.1:g.11260G= , LRG_529:g.11260G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000460680.6:c.1411G=
MANE Select
ENSP00000417132.1:p.Ala471=
ENST00000296288.9:c.1357G=
ENSP00000296288.5:p.Ala453=
ENST00000460680.5:c.1411G=
ENSP00000417132.1:p.Ala471=
ENST00000469613.5:c.119+67G=
ENST00000490804.1:n.839G=
NM_004656.3:c.1411G=
NP_004647.1:p.Ala471=
XM_011534149.1:c.1411G=
XP_011532451.1:p.Ala471=
XM_011534150.1:c.1411G=
XP_011532452.1:p.Ala471=
XM_011534151.1:c.1357G=
XP_011532453.1:p.Ala453=
XM_011534152.1:c.1411G=
XP_011532454.1:p.Ala471=
XM_011534149.3:c.1411G=
XP_011532451.1:p.Ala471=
XM_011534150.3:c.1411G=
XP_011532452.1:p.Ala471=
XM_011534151.3:c.1357G=
XP_011532453.1:p.Ala453=
XM_011534152.2:c.1411G=
XP_011532454.1:p.Ala471=
XM_017007303.2:c.1357G=
XP_016862792.1:p.Ala453=
NM_004656.4:c.1411G=
MANE Select
NP_004647.1:p.Ala471=