Canonical Allele Identifier: CA312777
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 203854
dbSNP Id: rs760782399
gnomAD v2: 6-49425585-G-T
gnomAD v3: 6-49457872-G-T
gnomAD v4: 6-49457872-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457872G>T , CM000668.2:g.49457872G>T GRCh38
NC_000006.11:g.49425585G>T , CM000668.1:g.49425585G>T GRCh37
NC_000006.10:g.49533544G>T NCBI36
NG_007100.1:g.10268C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.572C>A MANE Select ENSP00000274813.3:p.Ala191Glu
ENST00000274813.3:c.572C>A ENSP00000274813.3:p.Ala191Glu
NM_000255.3:c.572C>A NP_000246.2:p.Ala191Glu
XM_005249143.2:c.572C>A XP_005249200.1:p.Ala191Glu
XM_005249143.3:c.572C>A XP_005249200.1:p.Ala191Glu
NM_000255.4:c.572C>A MANE Select NP_000246.2:p.Ala191Glu