Canonical Allele Identifier: CA3846866
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2160550
ClinVar RCV Id: RCV003086236
dbSNP Id: rs754123075
ExAC: 6:49415463 A / G
gnomAD v2: 6-49415463-A-G
gnomAD v4: 6-49447750-A-G
MyVariant Identifiers: chr6:g.49415463A>G (hg19) chr6:g.49447750A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447750A>G , CM000668.2:g.49447750A>G GRCh38
NC_000006.11:g.49415463A>G , CM000668.1:g.49415463A>G GRCh37
NC_000006.10:g.49523422A>G NCBI36
NG_007100.1:g.20390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1480T>C MANE Select ENSP00000274813.3:p.Leu494=
ENST00000274813.3:c.1480T>C ENSP00000274813.3:p.Leu494=
NM_000255.3:c.1480T>C NP_000246.2:p.Leu494=
XM_005249143.2:c.1480T>C XP_005249200.1:p.Leu494=
XM_005249143.3:c.1480T>C XP_005249200.1:p.Leu494=
NM_000255.4:c.1480T>C MANE Select NP_000246.2:p.Leu494=
Search 100 bp 5'
Search 100 bp 3'