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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_000008.11:g.144515068G>T , CM000670.2:g.144515068G>T
GRCh38
NC_000008.10:g.145740452G>T , CM000670.1:g.145740452G>T
GRCh37
NC_000008.9:g.145711260G>T
NCBI36
NG_016430.1:g.7759C>A
NG_033083.1:g.2104G>T
NG_016430.2:g.7759C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000688394.1:n.511C>A
ENST00000617875.6:c.1488C>A
MANE Select
ENSP00000482313.2:p.Ile496=
ENST00000532846.2:c.369-26C>A
ENST00000617875.4:c.1488C>A
ENSP00000482313.1:p.Ile496=
ENST00000621189.4:c.417C>A
ENSP00000483145.1:p.Ile139=
NM_004260.3:c.1488C>A
NP_004251.3:p.Ile496=
XM_011517380.1:c.1488C>A
XP_011515682.1:p.Ile496=
XM_011517381.1:c.1392C>A
XP_011515683.1:p.Ile464=
XM_011517382.1:c.1488C>A
XP_011515684.1:p.Ile496=
XM_011517383.1:c.1488C>A
XP_011515685.1:p.Ile496=
XM_011517384.1:c.1488C>A
XP_011515686.1:p.Ile496=
XM_011517385.1:c.351C>A
XP_011515687.1:p.Ile117=
XR_928366.1:n.1529C>A
XR_928367.1:n.1529C>A
XR_928368.1:n.1531C>A
XM_011517384.3:c.1488C>A
XP_011515686.1:p.Ile496=
XM_017013991.2:c.1488C>A
XP_016869480.1:p.Ile496=
XM_017013992.2:c.1488C>A
XP_016869481.1:p.Ile496=
XM_017013993.2:c.1488C>A
XP_016869482.1:p.Ile496=
XM_017013994.2:c.1392C>A
XP_016869483.1:p.Ile464=
XM_017013995.2:c.1488C>A
XP_016869484.1:p.Ile496=
XM_017013996.2:c.1488C>A
XP_016869485.1:p.Ile496=
XM_017013997.2:c.1488C>A
XP_016869486.1:p.Ile496=
XM_017013998.1:c.1488C>A
XP_016869487.1:p.Ile496=
XM_017013999.2:c.1488C>A
XP_016869488.1:p.Ile496=
XM_017014000.1:c.351C>A
XP_016869489.1:p.Ile117=
XM_017014001.2:c.351C>A
XP_016869490.1:p.Ile117=
XR_001745626.2:n.1525C>A
XR_001745627.2:n.1525C>A
XR_001745628.2:n.1525C>A
XR_001745629.2:n.1525C>A
XR_001745630.2:n.1525C>A
NM_004260.4:c.1488C>A
MANE Select
NP_004251.4:p.Ile496=