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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_000001.11:g.154192019G= , CM000663.2:g.154192019G=
GRCh38
NC_000001.10:g.154164495G= , CM000663.1:g.154164495G=
GRCh37
NC_000001.9:g.152431119G=
NCBI36
NG_008621.1:g.5115C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000368530.7:c.-1C=
ENSP00000357516.3:n.-1C=
ENST00000651641.1:c.-1C=
MANE Select
ENSP00000498577.1:n.-1C=
ENST00000651644.1:c.-1C=
ENSP00000498648.1:n.-1C=
ENST00000271850.11:c.-1C=
ENSP00000271850.7:n.-1C=
ENST00000368530.6:c.-1C=
ENSP00000357516.2:n.-1C=
ENST00000515609.1:c.-1C=
ENSP00000426306.1:n.-1C=
NM_152263.3:c.-1C=
NP_689476.2:n.-1C=
NR_103460.1:n.49C=
XM_006711515.1:c.-1C=
XP_006711578.1:n.-1C=
XM_006711517.1:c.-1C=
XP_006711580.1:n.-1C=
XM_006711518.1:c.-1C=
XP_006711581.1:n.-1C=
XM_006711519.1:c.-1C=
XP_006711582.1:n.-1C=
XM_006711520.1:c.-1C=
XP_006711583.1:n.-1C=
XM_006711521.1:c.-1C=
XP_006711584.1:n.-1C=
XM_011509950.1:c.-1C=
XP_011508252.1:n.-1C=
XM_011509951.1:c.-1C=
XP_011508253.1:n.-1C=
NM_001364679.1:c.-1C=
NP_001351608.1:n.-1C=
NM_001364680.1:c.-1C=
NP_001351609.1:n.-1C=
NM_001364681.1:c.-1C=
NP_001351610.1:n.-1C=
NM_001364682.1:c.-1C=
NP_001351611.1:n.-1C=
NM_152263.4:c.-1C=
MANE Select
NP_689476.2:n.-1C=
NM_001364679.2:c.-1C=
NP_001351608.1:n.-1C=
NM_001364680.2:c.-1C=
NP_001351609.1:n.-1C=
NM_001364681.2:c.-1C=
NP_001351610.1:n.-1C=
NR_103460.2:n.82C=