Canonical Allele Identifier: CA450606413
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49451574-T-C
MyVariant Identifiers: chr6:g.49419287T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451574T>C , CM000668.2:g.49451574T>C GRCh38
NC_000006.11:g.49419287T>C , CM000668.1:g.49419287T>C GRCh37
NC_000006.10:g.49527246T>C NCBI36
NG_007100.1:g.16566A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1224A>G MANE Select ENSP00000274813.3:p.Thr408=
ENST00000274813.3:c.1224A>G ENSP00000274813.3:p.Thr408=
NM_000255.3:c.1224A>G NP_000246.2:p.Thr408=
XM_005249143.2:c.1224A>G XP_005249200.1:p.Thr408=
XM_005249143.3:c.1224A>G XP_005249200.1:p.Thr408=
NM_000255.4:c.1224A>G MANE Select NP_000246.2:p.Thr408=