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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_000009.12:g.91737400G>T , CM000671.2:g.91737400G>T
GRCh38
NC_000009.11:g.94499682G>T , CM000671.1:g.94499682G>T
GRCh37
NC_000009.10:g.93539503G>T
NCBI36
NG_008089.1:g.217763C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000375708.4:c.613C>A
MANE Select
ENSP00000364860.3:p.Arg205=
ENST00000375708.3:c.613C>A
ENSP00000364860.3:p.Arg205=
ENST00000375715.5:c.193C>A
ENSP00000364867.1:p.Arg65=
ENST00000550066.5:n.1081C>A
NM_004560.3:c.613C>A
NP_004551.2:p.Arg205=
XM_005252008.3:c.193C>A
XP_005252065.1:p.Arg65=
XM_006717121.2:c.193C>A
XP_006717184.1:p.Arg65=
XM_011518721.1:c.193C>A
XP_011517023.1:p.Arg65=
NM_001318204.1:c.613C>A
NP_001305133.1:p.Arg205=
XM_005252008.4:c.193C>A
XP_005252065.1:p.Arg65=
XM_006717121.3:c.193C>A
XP_006717184.1:p.Arg65=
XM_017014762.1:c.604C>A
XP_016870251.1:p.Arg202=
XM_017014763.1:c.193C>A
XP_016870252.1:p.Arg65=
XR_001746315.1:n.856C>A
NM_004560.4:c.613C>A
MANE Select
NP_004551.2:p.Arg205=
NM_001318204.2:c.613C>A
NP_001305133.1:p.Arg205=