Canonical Allele Identifier: CA3847114
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1083638
ClinVar RCV Id: RCV001400370
dbSNP Id: rs763408727
ExAC: 6:49425737 C / T
gnomAD v2: 6-49425737-C-T
gnomAD v3: 6-49458024-C-T
gnomAD v4: 6-49458024-C-T
MyVariant Identifiers: chr6:g.49425737C>T (hg19) chr6:g.49458024C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458024C>T , CM000668.2:g.49458024C>T GRCh38
NC_000006.11:g.49425737C>T , CM000668.1:g.49425737C>T GRCh37
NC_000006.10:g.49533696C>T NCBI36
NG_007100.1:g.10116G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.420G>A MANE Select ENSP00000274813.3:p.Leu140=
ENST00000274813.3:c.420G>A ENSP00000274813.3:p.Leu140=
NM_000255.3:c.420G>A NP_000246.2:p.Leu140=
XM_005249143.2:c.420G>A XP_005249200.1:p.Leu140=
XM_005249143.3:c.420G>A XP_005249200.1:p.Leu140=
NM_000255.4:c.420G>A MANE Select NP_000246.2:p.Leu140=
Search 100 bp 5'
Search 100 bp 3'