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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_000005.10:g.36953699G= , CM000667.2:g.36953699G=
GRCh38
NC_000005.9:g.36953801G= , CM000667.1:g.36953801G=
GRCh37
NC_000005.8:g.36989558G=
NCBI36
NG_006987.1:g.81817G=
NG_006987.2:g.81817G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000282516.13:c.3G=
MANE Select
ENSP00000282516.8:p.Met1=
ENST00000652901.1:c.3G=
ENSP00000499536.1:p.Met1=
ENST00000282516.12:c.3G=
ENSP00000282516.8:p.Met1=
ENST00000448238.2:c.3G=
ENSP00000406266.2:p.Met1=
ENST00000621733.1:c.-1+76677G=
ENSP00000480694.1:n.-1+76677G=
NM_015384.4:c.3G=
NP_056199.2:p.Met1=
NM_133433.3:c.3G=
NP_597677.2:p.Met1=
XM_005248280.2:c.3G=
XP_005248337.1:p.Met1=
XM_006714467.2:c.3G=
XP_006714530.1:p.Met1=
XM_006714468.1:c.3G=
XP_006714531.1:p.Met1=
XM_011514014.1:c.3G=
XP_011512316.1:p.Met1=
XM_011514015.1:c.3G=
XP_011512317.1:p.Met1=
XM_005248280.3:c.3G=
XP_005248337.1:p.Met1=
XM_006714468.2:c.3G=
XP_006714531.1:p.Met1=
XM_017009329.1:c.3G=
XP_016864818.1:p.Met1=
XM_017009331.1:c.3G=
XP_016864820.1:p.Met1=
NM_133433.4:c.3G=
MANE Select
NP_597677.2:p.Met1=
NM_015384.5:c.3G=
NP_056199.2:p.Met1=