Canonical Allele Identifier: CA364404559
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425640G>T (hg19) chr6:g.49457927G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457927G>T , CM000668.2:g.49457927G>T GRCh38
NC_000006.11:g.49425640G>T , CM000668.1:g.49425640G>T GRCh37
NC_000006.10:g.49533599G>T NCBI36
NG_007100.1:g.10213C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.517C>A MANE Select ENSP00000274813.3:p.Leu173Ile
ENST00000274813.3:c.517C>A ENSP00000274813.3:p.Leu173Ile
NM_000255.3:c.517C>A NP_000246.2:p.Leu173Ile
XM_005249143.2:c.517C>A XP_005249200.1:p.Leu173Ile
XM_005249143.3:c.517C>A XP_005249200.1:p.Leu173Ile
NM_000255.4:c.517C>A MANE Select NP_000246.2:p.Leu173Ile
Search 100 bp 5'
Search 100 bp 3'