Canonical Allele Identifier: CA3846871
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs747558018
ExAC: 6:49415477 A / T
gnomAD v2: 6-49415477-A-T
gnomAD v4: 6-49447764-A-T
MyVariant Identifiers: chr6:g.49415477A>T (hg19) chr6:g.49447764A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447764A>T , CM000668.2:g.49447764A>T GRCh38
NC_000006.11:g.49415477A>T , CM000668.1:g.49415477A>T GRCh37
NC_000006.10:g.49523436A>T NCBI36
NG_007100.1:g.20376T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1466T>A MANE Select ENSP00000274813.3:p.Val489Glu
ENST00000274813.3:c.1466T>A ENSP00000274813.3:p.Val489Glu
NM_000255.3:c.1466T>A NP_000246.2:p.Val489Glu
XM_005249143.2:c.1466T>A XP_005249200.1:p.Val489Glu
XM_005249143.3:c.1466T>A XP_005249200.1:p.Val489Glu
NM_000255.4:c.1466T>A MANE Select NP_000246.2:p.Val489Glu
Search 100 bp 5'
Search 100 bp 3'