×
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_000014.9:g.103100459C>A , CM000676.2:g.103100459C>A
GRCh38
NC_000014.8:g.103566796C>A , CM000676.1:g.103566796C>A
GRCh37
NC_000014.7:g.102636549C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000687959.1:c.240C>A
ENSP00000508483.1:p.Ser80=
ENST00000688303.1:c.240C>A
MANE Select
ENSP00000509130.1:p.Ser80=
ENST00000380069.7:c.240C>A
ENSP00000369409.3:p.Ser80=
ENST00000559116.1:c.132C>A
ENSP00000454163.1:p.Ser44=
NM_001077594.1:c.240C>A
NP_001071062.1:p.Ser80=
XM_011537323.1:c.414C>A
XP_011535625.1:p.Ser138=
XM_011537324.1:c.414C>A
XP_011535626.1:p.Ser138=
XM_011537325.1:c.240C>A
XP_011535627.1:p.Ser80=
XM_011537326.1:c.240C>A
XP_011535628.1:p.Ser80=
XM_011537327.1:c.240C>A
XP_011535629.1:p.Ser80=
XM_011537328.1:c.240C>A
XP_011535630.1:p.Ser80=
XM_011537329.1:c.240C>A
XP_011535631.1:p.Ser80=
XM_011537330.1:c.240C>A
XP_011535632.1:p.Ser80=
XM_011537331.1:c.240C>A
XP_011535633.1:p.Ser80=
XM_011537332.1:c.240C>A
XP_011535634.1:p.Ser80=
XM_011537333.1:c.351C>A
XP_011535635.1:p.Ser117=
XR_943558.1:n.969C>A
XM_011537323.3:c.414C>A
XP_011535625.1:p.Ser138=
XM_011537324.2:c.414C>A
XP_011535626.1:p.Ser138=
XM_011537325.2:c.240C>A
XP_011535627.1:p.Ser80=
XM_011537327.2:c.240C>A
XP_011535629.1:p.Ser80=
XM_011537328.2:c.240C>A
XP_011535630.1:p.Ser80=
XM_011537329.2:c.240C>A
XP_011535631.1:p.Ser80=
XM_011537330.2:c.240C>A
XP_011535632.1:p.Ser80=
XM_011537332.2:c.240C>A
XP_011535634.1:p.Ser80=
XM_011537333.2:c.351C>A
XP_011535635.1:p.Ser117=
XR_943558.2:n.996C>A
NM_001077594.2:c.240C>A
MANE Select
NP_001071062.1:p.Ser80=
NM_001394941.1:c.240C>A
NP_001381870.1:p.Ser80=
NM_001394942.1:c.240C>A
NP_001381871.1:p.Ser80=