Canonical Allele Identifier: CA364399028
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1402699
ClinVar RCV Id: RCV001906557
dbSNP Id: rs1471923240
gnomAD v2: 6-49419367-T-C
gnomAD v4: 6-49451654-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451654T>C , CM000668.2:g.49451654T>C GRCh38
NC_000006.11:g.49419367T>C , CM000668.1:g.49419367T>C GRCh37
NC_000006.10:g.49527326T>C NCBI36
NG_007100.1:g.16486A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1144A>G MANE Select ENSP00000274813.3:p.Thr382Ala
ENST00000274813.3:c.1144A>G ENSP00000274813.3:p.Thr382Ala
NM_000255.3:c.1144A>G NP_000246.2:p.Thr382Ala
XM_005249143.2:c.1144A>G XP_005249200.1:p.Thr382Ala
XM_005249143.3:c.1144A>G XP_005249200.1:p.Thr382Ala
NM_000255.4:c.1144A>G MANE Select NP_000246.2:p.Thr382Ala