×
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_000003.12:g.48589406T>A , CM000665.2:g.48589406T>A
GRCh38
NC_000003.11:g.48626839T>A , CM000665.1:g.48626839T>A
GRCh37
NC_000003.10:g.48601843T>A
NCBI36
NG_007065.1:g.10847A>T , LRG_286:g.10847A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000681320.1:c.2235A>T
MANE Select
ENSP00000506558.1:p.Pro745=
ENST00000328333.12:c.2235A>T
ENSP00000332371.8:p.Pro745=
NM_000094.3:c.2235A>T , LRG_286t1:c.2235A>T
NP_000085.1:p.Pro745=
XM_011533336.1:c.2235A>T
XP_011531638.1:p.Pro745=
XM_011533337.1:c.2235A>T
XP_011531639.1:p.Pro745=
XM_011533338.1:c.2235A>T
XP_011531640.1:p.Pro745=
XM_011533339.1:c.2235A>T
XP_011531641.1:p.Pro745=
XM_011533340.1:c.2235A>T
XP_011531642.1:p.Pro745=
XM_011533341.1:c.2235A>T
XP_011531643.1:p.Pro745=
XM_011533342.1:c.2235A>T
XP_011531644.1:p.Pro745=
XR_940369.1:n.2271A>T
XR_940370.1:n.2271A>T
XR_940371.1:n.2271A>T
XR_940372.1:n.2271A>T
XR_940373.1:n.2271A>T
XR_940374.1:n.2271A>T
XR_940375.1:n.2271A>T
XM_017005688.1:c.2235A>T
XP_016861177.1:p.Pro745=
XM_017005689.1:c.2235A>T
XP_016861178.1:p.Pro745=
XM_017005690.1:c.2235A>T
XP_016861179.1:p.Pro745=
XM_017005691.1:c.2235A>T
XP_016861180.1:p.Pro745=
XM_017005692.1:c.2235A>T
XP_016861181.1:p.Pro745=
XR_001740003.1:n.2271A>T
XR_001740004.1:n.2271A>T
XR_001740005.1:n.2271A>T
XR_001740006.1:n.2271A>T
XR_001740007.1:n.2271A>T
XR_001740008.1:n.2271A>T
XR_001740009.1:n.2271A>T
NM_000094.4:c.2235A>T
MANE Select
NP_000085.1:p.Pro745=