Canonical Allele Identifier: CA364405059
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 934764
ClinVar RCV Id: RCV002561121
dbSNP Id: rs1767770379
gnomAD v4: 6-49459171-A-G
MyVariant Identifiers: chr6:g.49426884A>G (hg19) chr6:g.49459171A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459171A>G , CM000668.2:g.49459171A>G GRCh38
NC_000006.11:g.49426884A>G , CM000668.1:g.49426884A>G GRCh37
NC_000006.10:g.49534843A>G NCBI36
NG_007100.1:g.8969T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.296T>C MANE Select ENSP00000274813.3:p.Met99Thr
ENST00000274813.3:c.296T>C ENSP00000274813.3:p.Met99Thr
NM_000255.3:c.296T>C NP_000246.2:p.Met99Thr
XM_005249143.2:c.296T>C XP_005249200.1:p.Met99Thr
XM_005249143.3:c.296T>C XP_005249200.1:p.Met99Thr
NM_000255.4:c.296T>C MANE Select NP_000246.2:p.Met99Thr
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