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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.2667031C= , CM000680.2:g.2667031C=
GRCh38
NC_000018.9:g.2667030C= , CM000680.1:g.2667030C=
GRCh37
NC_000018.8:g.2657030C=
NCBI36
NG_031972.1:g.16145C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000684915.1:n.581C=
ENST00000688342.1:c.424C=
ENSP00000508422.1:p.Pro142=
ENST00000320876.11:c.424C=
MANE Select
ENSP00000326603.7:p.Pro142=
ENST00000320876.10:c.424C=
ENSP00000326603.6:p.Pro142=
NM_015295.2:c.424C=
NP_056110.2:p.Pro142=
XM_011525642.1:c.424C=
XP_011523944.1:p.Pro142=
XM_011525643.1:c.424C=
XP_011523945.1:p.Pro142=
XM_011525644.1:c.40C=
XP_011523946.1:p.Pro14=
XM_011525645.1:c.-319C=
XP_011523947.1:n.-319C=
XM_011525646.1:c.424C=
XP_011523948.1:p.Pro142=
XM_011525647.1:c.424C=
XP_011523949.1:p.Pro142=
XR_430039.1:n.613C=
XR_935054.1:n.613C=
XR_935055.1:n.613C=
XM_011525643.2:c.424C=
XP_011523945.1:p.Pro142=
XM_017025684.1:c.-319C=
XP_016881173.1:n.-319C=
XR_001753172.1:n.613C=
XR_001753173.1:n.613C=
XR_001753174.1:n.613C=
XR_001753175.1:n.613C=
XR_001753176.1:n.613C=
XR_001753177.1:n.613C=
XR_001753178.1:n.613C=
XR_001753179.1:n.613C=
XR_935055.2:n.613C=
NM_015295.3:c.424C=
MANE Select
NP_056110.2:p.Pro142=