Canonical Allele Identifier: CA3847140
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 660243
ClinVar RCV Id: RCV000817397
dbSNP Id: rs754740382
ExAC: 6:49426888 T / G
gnomAD v2: 6-49426888-T-G
gnomAD v4: 6-49459175-T-G
MyVariant Identifiers: chr6:g.49426888T>G (hg19) chr6:g.49459175T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459175T>G , CM000668.2:g.49459175T>G GRCh38
NC_000006.11:g.49426888T>G , CM000668.1:g.49426888T>G GRCh37
NC_000006.10:g.49534847T>G NCBI36
NG_007100.1:g.8965A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.292A>C MANE Select ENSP00000274813.3:p.Thr98Pro
ENST00000274813.3:c.292A>C ENSP00000274813.3:p.Thr98Pro
NM_000255.3:c.292A>C NP_000246.2:p.Thr98Pro
XM_005249143.2:c.292A>C XP_005249200.1:p.Thr98Pro
XM_005249143.3:c.292A>C XP_005249200.1:p.Thr98Pro
NM_000255.4:c.292A>C MANE Select NP_000246.2:p.Thr98Pro
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