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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:
CA3846633
Gene: MMUT
HGNC
NCBI
Linked Data
dbSNP Id:
rs770205649
ExAC:
6:49399533 C / A
gnomAD v2:
6-49399533-C-A
gnomAD v4:
6-49431820-C-A
MyVariant Identifiers:
chr6:g.49399533C>A (hg19)
chr6:g.49431820C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49431820C>A , CM000668.2:g.49431820C>A
GRCh38
NC_000006.11:g.49399533C>A , CM000668.1:g.49399533C>A
GRCh37
NC_000006.10:g.49507492C>A
NCBI36
NG_007100.1:g.36320G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.2161G>T
MANE Select
ENSP00000274813.3:p.Val721Leu
ENST00000274813.3:c.2161G>T
ENSP00000274813.3:p.Val721Leu
NM_000255.3:c.2161G>T
NP_000246.2:p.Val721Leu
XM_005249143.2:c.2161G>T
XP_005249200.1:p.Val721Leu
XM_005249143.3:c.2161G>T
XP_005249200.1:p.Val721Leu
NM_000255.4:c.2161G>T
MANE Select
NP_000246.2:p.Val721Leu
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