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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_000007.14:g.96121843A>C , CM000669.2:g.96121843A>C
GRCh38
NC_000007.13:g.95751155A>C , CM000669.1:g.95751155A>C
GRCh37
NC_000007.12:g.95589091A>C
NCBI36
NG_012247.1:g.205305T>G
NG_012247.2:g.205305T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000265631.10:c.1746T>G
MANE Select
ENSP00000265631.6:p.Ala582=
ENST00000265631.9:c.1746T>G
ENSP00000265631.5:p.Ala582=
ENST00000416240.6:c.1749T>G
ENSP00000400101.2:p.Ala583=
ENST00000494085.1:n.156T>G
NM_001160210.1:c.1749T>G
NP_001153682.1:p.Ala583=
NM_014251.2:c.1746T>G
NP_055066.1:p.Ala582=
NR_027662.1:n.1821T>G
XM_006715831.2:c.1779T>G
XP_006715894.1:p.Ala593=
XM_011515728.1:c.894T>G
XP_011514030.1:p.Ala298=
XM_006715831.4:c.1779T>G
XP_006715894.1:p.Ala593=
XM_017011663.1:c.1737T>G
XP_016867152.1:p.Ala579=
XM_017011664.2:c.894T>G
XP_016867153.1:p.Ala298=
XM_017011665.1:c.894T>G
XP_016867154.1:p.Ala298=
XR_001744525.2:n.1992T>G
XR_002956405.1:n.2550T>G
NM_014251.3:c.1746T>G
MANE Select
NP_055066.1:p.Ala582=
NR_027662.2:n.1772T>G
NM_001160210.2:c.1749T>G
NP_001153682.1:p.Ala583=