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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.2656090C>A , CM000680.2:g.2656090C>A
GRCh38
NC_000018.9:g.2656089C>A , CM000680.1:g.2656089C>A
GRCh37
NC_000018.8:g.2646089C>A
NCBI36
NG_031972.1:g.5204C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000684915.1:n.172C>A
ENST00000688342.1:c.15C>A
ENSP00000508422.1:p.Asp5Glu
ENST00000320876.11:c.15C>A
MANE Select
ENSP00000326603.7:p.Asp5Glu
ENST00000320876.10:c.15C>A
ENSP00000326603.6:p.Asp5Glu
NM_015295.2:c.15C>A
NP_056110.2:p.Asp5Glu
XM_011525642.1:c.15C>A
XP_011523944.1:p.Asp5Glu
XM_011525643.1:c.15C>A
XP_011523945.1:p.Asp5Glu
XM_011525646.1:c.15C>A
XP_011523948.1:p.Asp5Glu
XM_011525647.1:c.15C>A
XP_011523949.1:p.Asp5Glu
XR_430039.1:n.204C>A
XR_935054.1:n.204C>A
XR_935055.1:n.204C>A
XM_011525643.2:c.15C>A
XP_011523945.1:p.Asp5Glu
XM_017025684.1:c.-728C>A
XP_016881173.1:n.-728C>A
XR_001753172.1:n.204C>A
XR_001753173.1:n.204C>A
XR_001753174.1:n.204C>A
XR_001753175.1:n.204C>A
XR_001753176.1:n.204C>A
XR_001753177.1:n.204C>A
XR_001753178.1:n.204C>A
XR_001753179.1:n.204C>A
XR_935055.2:n.204C>A
NM_015295.3:c.15C>A
MANE Select
NP_056110.2:p.Asp5Glu