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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_000010.11:g.99844366C>A , CM000672.2:g.99844366C>A
GRCh38
NC_000010.10:g.101604123C>A , CM000672.1:g.101604123C>A
GRCh37
NC_000010.9:g.101594113C>A
NCBI36
NG_011798.1:g.66661C>A
NG_011798.2:g.66769C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000647814.1:c.3888C>A
MANE Select
ENSP00000497274.1:p.Ser1296Arg
ENST00000649459.1:n.236C>A
ENST00000370449.8:c.3888C>A
ENSP00000359478.4:p.Ser1296Arg
NM_000392.4:c.3888C>A
NP_000383.1:p.Ser1296Arg
XM_006717630.2:c.3192C>A
XP_006717693.1:p.Ser1064Arg
XR_945604.1:n.4077C>A
XR_945605.1:n.3952C>A
NM_000392.5:c.3888C>A
MANE Select
NP_000383.2:p.Ser1296Arg
XM_006717630.3:c.3192C>A
XP_006717693.1:p.Ser1064Arg
XR_945604.3:n.4131C>A
XR_945605.3:n.4004C>A