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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_000004.12:g.177442350A>T , CM000666.2:g.177442350A>T
GRCh38
NC_000004.11:g.178363504A>T , CM000666.1:g.178363504A>T
GRCh37
NC_000004.10:g.178600498A>T
NCBI36
NG_011845.2:g.5154T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000264595.7:c.26T>A
MANE Select
ENSP00000264595.2:p.Val9Glu
ENST00000264595.6:c.26T>A
ENSP00000264595.2:p.Val9Glu
ENST00000506853.5:n.60T>A
ENST00000510955.5:n.60T>A
ENST00000511231.1:n.60T>A
NM_000027.3:c.26T>A
NP_000018.2:p.Val9Glu
NM_001171988.1:c.26T>A
NP_001165459.1:p.Val9Glu
NR_033655.1:n.154T>A
XM_006714123.2:c.26T>A
XP_006714186.1:p.Val9Glu
XR_001741155.2:n.120T>A
NM_000027.4:c.26T>A
MANE Select
NP_000018.2:p.Val9Glu
NM_001171988.2:c.26T>A
NP_001165459.1:p.Val9Glu
NR_033655.2:n.88T>A