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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_000018.10:g.23539826G= , CM000680.2:g.23539826G=
GRCh38
NC_000018.9:g.21119790G= , CM000680.1:g.21119790G=
GRCh37
NC_000018.8:g.19373788G=
NCBI36
NG_012795.1:g.51792C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000269228.10:c.2780C=
MANE Select
ENSP00000269228.4:p.Ala927=
ENST00000269228.9:c.2780C=
ENSP00000269228.4:p.Ala927=
ENST00000540608.5:n.2694C=
ENST00000586718.1:n.571C=
ENST00000591051.1:c.1858C=
ENST00000591075.1:n.73C=
NM_000271.4:c.2780C=
NP_000262.2:p.Ala927=
XM_005258277.1:c.2831C=
XP_005258334.1:p.Ala944=
XM_005258278.3:c.2831C=
XP_005258335.1:p.Ala944=
XM_005258279.1:c.2780C=
XP_005258336.1:p.Ala927=
XM_006722479.2:c.2831C=
XP_006722542.1:p.Ala944=
XM_011526015.1:c.2366C=
XP_011524317.1:p.Ala789=
XM_005258278.5:c.2831C=
XP_005258335.1:p.Ala944=
XM_005258279.2:c.2780C=
XP_005258336.1:p.Ala927=
XM_006722479.3:c.2831C=
XP_006722542.1:p.Ala944=
XM_017025784.1:c.2831C=
XP_016881273.1:p.Ala944=
XM_017025785.1:c.2831C=
XP_016881274.1:p.Ala944=
XM_017025786.1:c.2780C=
XP_016881275.1:p.Ala927=
XM_017025787.1:c.2780C=
XP_016881276.1:p.Ala927=
NM_000271.5:c.2780C=
MANE Select
NP_000262.2:p.Ala927=