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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_000008.11:g.43192336T= , CM000670.2:g.43192336T=
GRCh38
NC_000008.10:g.43047479T= , CM000670.1:g.43047479T=
GRCh37
NC_000008.9:g.43166636T=
NCBI36
NG_009552.1:g.56888T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000379644.9:c.1283T=
MANE Select
ENSP00000368965.4:p.Phe428=
ENST00000379644.8:c.1283T=
ENSP00000368965.4:p.Phe428=
ENST00000520678.1:n.216T=
ENST00000521576.1:c.434T=
ENSP00000429029.1:p.Phe145=
ENST00000524016.5:c.387T=
NM_152419.2:c.1283T=
NP_689632.2:p.Phe428=
XM_005273409.1:c.1283T=
XP_005273466.1:p.Phe428=
XM_005273410.1:c.1283T=
XP_005273467.1:p.Phe428=
XM_005273411.1:c.1091T=
XP_005273468.1:p.Phe364=
XM_005273412.2:c.1283T=
XP_005273469.1:p.Phe428=
NM_001363227.1:c.1283T=
NP_001350156.1:p.Phe428=
NM_001363228.1:c.1091T=
NP_001350157.1:p.Phe364=
NM_001363229.1:c.419T=
NP_001350158.1:p.Phe140=
XM_005273412.4:c.1283T=
XP_005273469.1:p.Phe428=
NM_152419.3:c.1283T=
MANE Select
NP_689632.2:p.Phe428=
NM_001363227.2:c.1283T=
NP_001350156.1:p.Phe428=
NM_001363228.2:c.1091T=
NP_001350157.1:p.Phe364=
NM_001363229.2:c.419T=
NP_001350158.1:p.Phe140=