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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_000002.12:g.219418486C>A , CM000664.2:g.219418486C>A
GRCh38
NC_000002.11:g.220283208C>A , CM000664.1:g.220283208C>A
GRCh37
NC_000002.10:g.219991452C>A
NCBI36
NG_008043.1:g.5110C>A , LRG_380:g.5110C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000373960.4:c.24C>A
MANE Select
ENSP00000363071.3:p.Ser8Arg
ENST00000373960.3:c.24C>A
ENSP00000363071.3:p.Ser8Arg
NM_001927.3:c.24C>A , LRG_380t1:c.24C>A
NP_001918.3:p.Ser8Arg
NM_001927.4:c.24C>A
MANE Select
NP_001918.3:p.Ser8Arg
NM_001382708.1:c.24C>A
NP_001369637.1:p.Ser8Arg
NM_001382709.1:c.24C>A
NP_001369638.1:p.Ser8Arg
NM_001382710.1:c.24C>A
NP_001369639.1:p.Ser8Arg
NM_001382711.1:c.24C>A
NP_001369640.1:p.Ser8Arg
NM_001382712.1:c.24C>A
NP_001369641.1:p.Ser8Arg
NM_001382713.1:c.24C>A
NP_001369642.1:p.Ser8Arg