Canonical Allele Identifier: CA3847170
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs748832610
ExAC: 6:49426997 C / T
gnomAD v2: 6-49426997-C-T
gnomAD v4: 6-49459284-C-T
MyVariant Identifiers: chr6:g.49426997C>T (hg19) chr6:g.49459284C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459284C>T , CM000668.2:g.49459284C>T GRCh38
NC_000006.11:g.49426997C>T , CM000668.1:g.49426997C>T GRCh37
NC_000006.10:g.49534956C>T NCBI36
NG_007100.1:g.8856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.183G>A MANE Select ENSP00000274813.3:p.Trp61Ter
ENST00000274813.3:c.183G>A ENSP00000274813.3:p.Trp61Ter
NM_000255.3:c.183G>A NP_000246.2:p.Trp61Ter
XM_005249143.2:c.183G>A XP_005249200.1:p.Trp61Ter
XM_005249143.3:c.183G>A XP_005249200.1:p.Trp61Ter
NM_000255.4:c.183G>A MANE Select NP_000246.2:p.Trp61Ter
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