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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA411033651
Gene: MN1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.28147048T>A (hg19)
chr22:g.27751060T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.27751060T>A , CM000684.2:g.27751060T>A
GRCh38
NC_000022.10:g.28147048T>A , CM000684.1:g.28147048T>A
GRCh37
NC_000022.9:g.26477048T>A
NCBI36
NG_023258.1:g.55439A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000703102.1:n.343A>T
ENST00000302326.5:c.3818A>T
MANE Select
ENSP00000304956.4:p.Gln1273Leu
ENST00000302326.4:c.3818A>T
ENSP00000304956.4:p.Gln1273Leu
ENST00000424656.1:c.171A>T
ENST00000497225.1:n.174A>T
NM_002430.2:c.3818A>T
NP_002421.3:p.Gln1273Leu
NM_002430.3:c.3818A>T
MANE Select
NP_002421.3:p.Gln1273Leu
Search 100 bp 5'
Search 100 bp 3'