Canonical Allele Identifier: CA364404999
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1499832
ClinVar RCV Id: RCV002013072
dbSNP Id: rs121918257
gnomAD v4: 6-49459145-G-C
MyVariant Identifiers: chr6:g.49426858G>C (hg19) chr6:g.49459145G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459145G>C , CM000668.2:g.49459145G>C GRCh38
NC_000006.11:g.49426858G>C , CM000668.1:g.49426858G>C GRCh37
NC_000006.10:g.49534817G>C NCBI36
NG_007100.1:g.8995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.322C>G MANE Select ENSP00000274813.3:p.Arg108Gly
ENST00000274813.3:c.322C>G ENSP00000274813.3:p.Arg108Gly
NM_000255.3:c.322C>G NP_000246.2:p.Arg108Gly
XM_005249143.2:c.322C>G XP_005249200.1:p.Arg108Gly
XM_005249143.3:c.322C>G XP_005249200.1:p.Arg108Gly
NM_000255.4:c.322C>G MANE Select NP_000246.2:p.Arg108Gly
Search 100 bp 5'
Search 100 bp 3'