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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_000023.11:g.46501148A>G , CM000685.2:g.46501148A>G
GRCh38
NC_000023.10:g.46360583A>G , CM000685.1:g.46360583A>G
GRCh37
NC_000023.9:g.46245527A>G
NCBI36
NG_023376.1:g.49310T>C
NG_023376.2:g.49310T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000683375.1:c.426T>C
MANE Select
ENSP00000506769.1:p.Tyr142=
ENST00000414387.6:c.423T>C
ENSP00000428248.1:p.Tyr141=
ENST00000523374.5:c.441T>C
ENSP00000429148.1:p.Tyr147=
NM_001039891.2:c.441T>C
NP_001034980.1:p.Tyr147=
NM_001146291.1:c.423T>C
NP_001139763.1:p.Tyr141=
NM_001190417.1:c.426T>C
NP_001177346.1:p.Tyr142=
XM_011543941.1:c.441T>C
XP_011542243.1:p.Tyr147=
XM_011543942.1:c.441T>C
XP_011542244.1:p.Tyr147=
XM_011543943.1:c.438T>C
XP_011542245.1:p.Tyr146=
XM_011543944.1:c.333T>C
XP_011542246.1:p.Tyr111=
XM_011543945.1:c.240T>C
XP_011542247.1:p.Tyr80=
XM_011543946.1:c.237T>C
XP_011542248.1:p.Tyr79=
XM_011543941.3:c.441T>C
XP_011542243.1:p.Tyr147=
XM_011543943.3:c.438T>C
XP_011542245.1:p.Tyr146=
XM_011543944.2:c.333T>C
XP_011542246.1:p.Tyr111=
XM_011543945.2:c.240T>C
XP_011542247.1:p.Tyr80=
XM_017029728.1:c.240T>C
XP_016885217.1:p.Tyr80=
XM_017029729.1:c.240T>C
XP_016885218.1:p.Tyr80=
XM_017029730.2:c.240T>C
XP_016885219.1:p.Tyr80=
XM_017029731.1:c.240T>C
XP_016885220.1:p.Tyr80=
XM_017029732.1:c.237T>C
XP_016885221.1:p.Tyr79=
XM_017029733.2:c.237T>C
XP_016885222.1:p.Tyr79=
NM_001039891.3:c.441T>C
NP_001034980.1:p.Tyr147=
NM_001146291.2:c.423T>C
NP_001139763.1:p.Tyr141=
NM_001190417.2:c.426T>C
MANE Select
NP_001177346.1:p.Tyr142=