Canonical Allele Identifier: CA3846956
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 290030
dbSNP Id: rs150968643
gnomAD v2: 6-49419396-A-G
gnomAD v3: 6-49451683-A-G
gnomAD v4: 6-49451683-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451683A>G , CM000668.2:g.49451683A>G GRCh38
NC_000006.11:g.49419396A>G , CM000668.1:g.49419396A>G GRCh37
NC_000006.10:g.49527355A>G NCBI36
NG_007100.1:g.16457T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1115T>C MANE Select ENSP00000274813.3:p.Ile372Thr
ENST00000274813.3:c.1115T>C ENSP00000274813.3:p.Ile372Thr
NM_000255.3:c.1115T>C NP_000246.2:p.Ile372Thr
XM_005249143.2:c.1115T>C XP_005249200.1:p.Ile372Thr
XM_005249143.3:c.1115T>C XP_005249200.1:p.Ile372Thr
NM_000255.4:c.1115T>C MANE Select NP_000246.2:p.Ile372Thr