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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_000008.11:g.47929874G= , CM000670.2:g.47929874G=
GRCh38
NC_000008.10:g.48842434G= , CM000670.1:g.48842434G=
GRCh37
NC_000008.9:g.49004987G=
NCBI36
NG_023435.1:g.35310C= , LRG_162:g.35310C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000314191.7:c.2031C=
MANE Select
ENSP00000313420.3:p.Ala677=
ENST00000314191.6:c.2031C=
ENSP00000313420.3:p.Ala677=
ENST00000338368.7:c.2031C=
ENSP00000345182.4:p.Ala677=
NM_001081640.1:c.2031C=
NP_001075109.1:p.Ala677=
NM_006904.6:c.2031C= , LRG_162t1:c.2031C=
NP_008835.5:p.Ala677=
XM_011517567.1:c.2031C=
XP_011515869.1:p.Ala677=
XM_011517568.1:c.2031C=
XP_011515870.1:p.Ala677=
NM_001081640.2:c.2031C=
NP_001075109.1:p.Ala677=
NM_006904.7:c.2031C=
MANE Select
NP_008835.5:p.Ala677=