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
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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'