Canonical Allele Identifier: CA364583032
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2737563
ClinVar RCV Id: RCV003562333
MyVariant Identifiers: chr6:g.49399544C>T (hg19) chr6:g.49431831C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431831C>T , CM000668.2:g.49431831C>T GRCh38
NC_000006.11:g.49399544C>T , CM000668.1:g.49399544C>T GRCh37
NC_000006.10:g.49507503C>T NCBI36
NG_007100.1:g.36309G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2150G>A MANE Select ENSP00000274813.3:p.Gly717Asp
ENST00000274813.3:c.2150G>A ENSP00000274813.3:p.Gly717Asp
NM_000255.3:c.2150G>A NP_000246.2:p.Gly717Asp
XM_005249143.2:c.2150G>A XP_005249200.1:p.Gly717Asp
XM_005249143.3:c.2150G>A XP_005249200.1:p.Gly717Asp
NM_000255.4:c.2150G>A MANE Select NP_000246.2:p.Gly717Asp
Search 100 bp 5'
Search 100 bp 3'