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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:
CA249727
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1878
ClinVar RCV Id:
RCV000001955
RCV000203407
RCV000374459
RCV001271724
RCV003114172
dbSNP Id:
rs121918249
gnomAD v2:
6-49426867-A-G
gnomAD v3:
6-49459154-A-G
gnomAD v4:
6-49459154-A-G
MyVariant Identifiers:
chr6:g.49426867A>G (hg19)
chr6:g.49459154A>G (hg38)
PubMed:
PMID:1977311
PMID:20301409
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49459154A>G , CM000668.2:g.49459154A>G
GRCh38
NC_000006.11:g.49426867A>G , CM000668.1:g.49426867A>G
GRCh37
NC_000006.10:g.49534826A>G
NCBI36
NG_007100.1:g.8986T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.313T>C
MANE Select
ENSP00000274813.3:p.Trp105Arg
ENST00000274813.3:c.313T>C
ENSP00000274813.3:p.Trp105Arg
NM_000255.3:c.313T>C
NP_000246.2:p.Trp105Arg
XM_005249143.2:c.313T>C
XP_005249200.1:p.Trp105Arg
XM_005249143.3:c.313T>C
XP_005249200.1:p.Trp105Arg
NM_000255.4:c.313T>C
MANE Select
NP_000246.2:p.Trp105Arg
Search 100 bp 5'
Search 100 bp 3'