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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_000002.12:g.148458833G= , CM000664.2:g.148458833G=
GRCh38
NC_000002.11:g.149216402G= , CM000664.1:g.149216402G=
GRCh37
NC_000002.10:g.148932872G=
NCBI36
NG_017003.1:g.442823G=
NG_017003.2:g.442823G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000637159.1:c.75G=
ENSP00000490140.1:p.Trp25=
ENST00000638043.2:c.75G=
ENSP00000490728.2:p.Trp25=
ENST00000642680.2:c.75G=
MANE Select
ENSP00000493871.2:p.Trp25=
ENST00000404807.5:c.75G=
ENSP00000384672.1:p.Trp25=
ENST00000407073.5:c.75G=
ENSP00000386049.1:p.Trp25=
ENST00000627651.2:c.75G=
ENSP00000486370.1:p.Trp25=
ENST00000629878.2:c.75G=
ENSP00000487089.1:p.Trp25=
NM_018328.4:c.75G=
NP_060798.2:p.Trp25=
XM_005263711.2:c.75G=
XP_005263768.1:p.Trp25=
XM_011511470.1:c.75G=
XP_011509772.1:p.Trp25=
XM_011511471.1:c.75G=
XP_011509773.1:p.Trp25=
XM_011511472.1:c.75G=
XP_011509774.1:p.Trp25=
XM_011511473.1:c.75G=
XP_011509775.1:p.Trp25=
XM_011511474.1:c.75G=
XP_011509776.1:p.Trp25=
XM_011511475.1:c.75G=
XP_011509777.1:p.Trp25=
XM_011511476.1:c.75G=
XP_011509778.1:p.Trp25=
XR_922967.1:n.1304G=
XM_011511470.2:c.75G=
XP_011509772.1:p.Trp25=
XM_011511472.2:c.75G=
XP_011509774.1:p.Trp25=
XM_024452987.1:c.75G=
XP_024308755.1:p.Trp25=
XM_024452988.1:c.75G=
XP_024308756.1:p.Trp25=
XM_024452989.1:c.75G=
XP_024308757.1:p.Trp25=
XM_024452990.1:c.75G=
XP_024308758.1:p.Trp25=
XR_002959318.1:n.387G=
XR_002959319.1:n.387G=
NM_001378120.1:c.75G=
MANE Select
NP_001365049.1:p.Trp25=
NM_018328.5:c.75G=
NP_060798.2:p.Trp25=