Canonical Allele Identifier: CA3847111
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 506861
ClinVar RCV Id: RCV000612888 RCV001506764 RCV001271721 RCV002498901
dbSNP Id: rs547142339
ExAC: 6:49425734 C / T
gnomAD v2: 6-49425734-C-T
gnomAD v3: 6-49458021-C-T
gnomAD v4: 6-49458021-C-T
MyVariant Identifiers: chr6:g.49425734C>T (hg19) chr6:g.49458021C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458021C>T , CM000668.2:g.49458021C>T GRCh38
NC_000006.11:g.49425734C>T , CM000668.1:g.49425734C>T GRCh37
NC_000006.10:g.49533693C>T NCBI36
NG_007100.1:g.10119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.423G>A MANE Select ENSP00000274813.3:p.Ala141=
ENST00000274813.3:c.423G>A ENSP00000274813.3:p.Ala141=
NM_000255.3:c.423G>A NP_000246.2:p.Ala141=
XM_005249143.2:c.423G>A XP_005249200.1:p.Ala141=
XM_005249143.3:c.423G>A XP_005249200.1:p.Ala141=
NM_000255.4:c.423G>A MANE Select NP_000246.2:p.Ala141=
Search 100 bp 5'
Search 100 bp 3'