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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_000004.12:g.88113303C= , CM000666.2:g.88113303C=
GRCh38
NC_000004.11:g.89034455C= , CM000666.1:g.89034455C=
GRCh37
NC_000004.10:g.89253479C=
NCBI36
NG_032067.2:g.123020G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000237612.8:c.1194G=
MANE Select
ENSP00000237612.3:p.Gln398=
ENST00000650821.1:c.1194G=
ENSP00000498246.1:p.Gln398=
ENST00000237612.7:c.1194G=
ENSP00000237612.3:p.Gln398=
ENST00000515655.5:c.1194G=
ENSP00000426917.1:p.Gln398=
NM_001257386.1:c.1194G=
NP_001244315.1:p.Gln398=
NM_004827.2:c.1194G=
NP_004818.2:p.Gln398=
XM_005263354.2:c.1194G=
XP_005263411.1:p.Gln398=
XM_005263355.2:c.1194G=
XP_005263412.1:p.Gln398=
XM_005263356.2:c.1188G=
XP_005263413.1:p.Gln396=
XM_011532420.1:c.1194G=
XP_011530722.1:p.Gln398=
NM_001257386.2:c.1194G=
NP_001244315.1:p.Gln398=
NM_001348985.1:c.1194G=
NP_001335914.1:p.Gln398=
NM_001348986.1:c.1194G=
NP_001335915.1:p.Gln398=
NM_001348987.1:c.1188G=
NP_001335916.1:p.Gln396=
NM_001348988.1:c.1194G=
NP_001335917.1:p.Gln398=
NM_001348989.1:c.1194G=
NP_001335918.1:p.Gln398=
XM_005263355.4:c.1194G=
XP_005263412.1:p.Gln398=
XM_011532420.3:c.1194G=
XP_011530722.1:p.Gln398=
XM_017008852.2:c.1188G=
XP_016864341.1:p.Gln396=
NM_004827.3:c.1194G=
MANE Select
NP_004818.2:p.Gln398=
NM_001348989.2:c.1194G=
NP_001335918.1:p.Gln398=