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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_000001.11:g.40306149T>A , CM000663.2:g.40306149T>A
GRCh38
NC_000001.10:g.40771821T>A , CM000663.1:g.40771821T>A
GRCh37
NC_000001.9:g.40544408T>A
NCBI36
NG_008031.1:g.16119A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000372748.8:c.1047A>T
MANE Select
ENSP00000361834.3:p.Gly349=
ENST00000372748.7:c.1047A>T
ENSP00000361834.3:p.Gly349=
ENST00000482722.5:n.1350A>T
NM_001852.3:c.1047A>T
NP_001843.1:p.Gly349=
XM_006710365.2:c.1047A>T
XP_006710428.1:p.Gly349=
XM_011540714.1:c.1059A>T
XP_011539016.1:p.Gly353=
XM_011540715.1:c.777A>T
XP_011539017.1:p.Gly259=
XM_011540716.1:c.777A>T
XP_011539018.1:p.Gly259=
XM_011540717.1:c.504A>T
XP_011539019.1:p.Gly168=
XM_006710365.3:c.1047A>T
XP_006710428.1:p.Gly349=
XM_011540715.2:c.777A>T
XP_011539017.1:p.Gly259=
XM_011540716.2:c.777A>T
XP_011539018.1:p.Gly259=
XM_011540717.2:c.504A>T
XP_011539019.1:p.Gly168=
XM_017000332.1:c.1059A>T
XP_016855821.1:p.Gly353=
XM_017000333.1:c.765A>T
XP_016855822.1:p.Gly255=
NM_001852.4:c.1047A>T
MANE Select
NP_001843.1:p.Gly349=