Canonical Allele Identifier: CA235522
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 100707
dbSNP Id: rs483352778
gnomAD v2: 6-49426857-C-T
gnomAD v3: 6-49459144-C-T
gnomAD v4: 6-49459144-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459144C>T , CM000668.2:g.49459144C>T GRCh38
NC_000006.11:g.49426857C>T , CM000668.1:g.49426857C>T GRCh37
NC_000006.10:g.49534816C>T NCBI36
NG_007100.1:g.8996G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.323G>A MANE Select ENSP00000274813.3:p.Arg108His
ENST00000274813.3:c.323G>A ENSP00000274813.3:p.Arg108His
NM_000255.3:c.323G>A NP_000246.2:p.Arg108His
XM_005249143.2:c.323G>A XP_005249200.1:p.Arg108His
XM_005249143.3:c.323G>A XP_005249200.1:p.Arg108His
NM_000255.4:c.323G>A MANE Select NP_000246.2:p.Arg108His