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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_000014.9:g.103100451C>A , CM000676.2:g.103100451C>A
GRCh38
NC_000014.8:g.103566788C>A , CM000676.1:g.103566788C>A
GRCh37
NC_000014.7:g.102636541C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000687959.1:c.232C>A
ENSP00000508483.1:p.Arg78=
ENST00000688303.1:c.232C>A
MANE Select
ENSP00000509130.1:p.Arg78=
ENST00000380069.7:c.232C>A
ENSP00000369409.3:p.Arg78=
ENST00000559116.1:c.124C>A
ENSP00000454163.1:p.Arg42=
NM_001077594.1:c.232C>A
NP_001071062.1:p.Arg78=
XM_011537323.1:c.406C>A
XP_011535625.1:p.Arg136=
XM_011537324.1:c.406C>A
XP_011535626.1:p.Arg136=
XM_011537325.1:c.232C>A
XP_011535627.1:p.Arg78=
XM_011537326.1:c.232C>A
XP_011535628.1:p.Arg78=
XM_011537327.1:c.232C>A
XP_011535629.1:p.Arg78=
XM_011537328.1:c.232C>A
XP_011535630.1:p.Arg78=
XM_011537329.1:c.232C>A
XP_011535631.1:p.Arg78=
XM_011537330.1:c.232C>A
XP_011535632.1:p.Arg78=
XM_011537331.1:c.232C>A
XP_011535633.1:p.Arg78=
XM_011537332.1:c.232C>A
XP_011535634.1:p.Arg78=
XM_011537333.1:c.343C>A
XP_011535635.1:p.Arg115=
XR_943558.1:n.961C>A
XM_011537323.3:c.406C>A
XP_011535625.1:p.Arg136=
XM_011537324.2:c.406C>A
XP_011535626.1:p.Arg136=
XM_011537325.2:c.232C>A
XP_011535627.1:p.Arg78=
XM_011537327.2:c.232C>A
XP_011535629.1:p.Arg78=
XM_011537328.2:c.232C>A
XP_011535630.1:p.Arg78=
XM_011537329.2:c.232C>A
XP_011535631.1:p.Arg78=
XM_011537330.2:c.232C>A
XP_011535632.1:p.Arg78=
XM_011537332.2:c.232C>A
XP_011535634.1:p.Arg78=
XM_011537333.2:c.343C>A
XP_011535635.1:p.Arg115=
XR_943558.2:n.988C>A
NM_001077594.2:c.232C>A
MANE Select
NP_001071062.1:p.Arg78=
NM_001394941.1:c.232C>A
NP_001381870.1:p.Arg78=
NM_001394942.1:c.232C>A
NP_001381871.1:p.Arg78=