Canonical Allele Identifier: CA312784
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 203859
dbSNP Id: rs547709692
gnomAD v2: 6-49423814-G-A
gnomAD v3: 6-49456101-G-A
gnomAD v4: 6-49456101-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49456101G>A , CM000668.2:g.49456101G>A GRCh38
NC_000006.11:g.49423814G>A , CM000668.1:g.49423814G>A GRCh37
NC_000006.10:g.49531773G>A NCBI36
NG_007100.1:g.12039C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.890C>T MANE Select ENSP00000274813.3:p.Thr297Ile
ENST00000274813.3:c.890C>T ENSP00000274813.3:p.Thr297Ile
NM_000255.3:c.890C>T NP_000246.2:p.Thr297Ile
XM_005249143.2:c.890C>T XP_005249200.1:p.Thr297Ile
XM_005249143.3:c.890C>T XP_005249200.1:p.Thr297Ile
NM_000255.4:c.890C>T MANE Select NP_000246.2:p.Thr297Ile