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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:
CA3847076
Gene: MMUT
HGNC
NCBI
Linked Data
dbSNP Id:
rs764347583
ExAC:
6:49425505 G / A
gnomAD v2:
6-49425505-G-A
MyVariant Identifiers:
chr6:g.49425505G>A (hg19)
chr6:g.49457792G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49457792G>A , CM000668.2:g.49457792G>A
GRCh38
NC_000006.11:g.49425505G>A , CM000668.1:g.49425505G>A
GRCh37
NC_000006.10:g.49533464G>A
NCBI36
NG_007100.1:g.10348C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.652C>T
MANE Select
ENSP00000274813.3:p.Gln218Ter
ENST00000274813.3:c.652C>T
ENSP00000274813.3:p.Gln218Ter
NM_000255.3:c.652C>T
NP_000246.2:p.Gln218Ter
XM_005249143.2:c.652C>T
XP_005249200.1:p.Gln218Ter
XM_005249143.3:c.652C>T
XP_005249200.1:p.Gln218Ter
NM_000255.4:c.652C>T
MANE Select
NP_000246.2:p.Gln218Ter
Search 100 bp 5'
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