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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_000003.12:g.46357534T>G , CM000665.2:g.46357534T>G
GRCh38
NC_000003.11:g.46399025T>G , CM000665.1:g.46399025T>G
GRCh37
NC_000003.10:g.46374029T>G
NCBI36
NG_021428.1:g.8791T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000445132.3:c.7T>G
MANE Select
ENSP00000399285.2:p.Ser3Ala
ENST00000292301.4:c.7T>G
ENSP00000292301.3:p.Ser3Ala
ENST00000400888.2:c.7T>G
ENSP00000383681.2:p.Ser3Ala
ENST00000421659.1:c.7T>G
ENSP00000396736.1:p.Ser3Ala
ENST00000445132.2:c.7T>G
ENSP00000399285.2:p.Ser3Ala
ENST00000465202.1:n.315-583T>G
NM_001123041.2:c.7T>G
NP_001116513.2:p.Ser3Ala
NM_001123396.1:c.7T>G
NP_001116868.1:p.Ser3Ala
XM_011534069.1:c.7T>G
XP_011532371.1:p.Ser3Ala
NM_001123396.2:c.7T>G
NP_001116868.1:p.Ser3Ala
NM_001123396.3:c.7T>G
NP_001116868.1:p.Ser3Ala
NM_001123041.3:c.7T>G
NP_001116513.2:p.Ser3Ala
NM_001123396.4:c.7T>G
MANE Select
NP_001116868.1:p.Ser3Ala