Canonical Allele Identifier: CA3847166
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 3178636
ClinVar RCV Id: RCV004475008
dbSNP Id: rs780214259
ExAC: 6:49426984 C / T
gnomAD v2: 6-49426984-C-T
gnomAD v4: 6-49459271-C-T
MyVariant Identifiers: chr6:g.49426984C>T (hg19) chr6:g.49459271C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459271C>T , CM000668.2:g.49459271C>T GRCh38
NC_000006.11:g.49426984C>T , CM000668.1:g.49426984C>T GRCh37
NC_000006.10:g.49534943C>T NCBI36
NG_007100.1:g.8869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.196G>A MANE Select ENSP00000274813.3:p.Gly66Arg
ENST00000274813.3:c.196G>A ENSP00000274813.3:p.Gly66Arg
NM_000255.3:c.196G>A NP_000246.2:p.Gly66Arg
XM_005249143.2:c.196G>A XP_005249200.1:p.Gly66Arg
XM_005249143.3:c.196G>A XP_005249200.1:p.Gly66Arg
NM_000255.4:c.196G>A MANE Select NP_000246.2:p.Gly66Arg
Search 100 bp 5'
Search 100 bp 3'