Canonical Allele Identifier: CA3847134
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 255622
ClinVar RCV Id: RCV000253303 RCV001400191
dbSNP Id: rs772753347
ExAC: 6:49426817 C / T
gnomAD v2: 6-49426817-C-T
gnomAD v3: 6-49459104-C-T
gnomAD v4: 6-49459104-C-T
MyVariant Identifiers: chr6:g.49426817C>T (hg19) chr6:g.49459104C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459104C>T , CM000668.2:g.49459104C>T GRCh38
NC_000006.11:g.49426817C>T , CM000668.1:g.49426817C>T GRCh37
NC_000006.10:g.49534776C>T NCBI36
NG_007100.1:g.9036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.363G>A MANE Select ENSP00000274813.3:p.Lys121=
ENST00000274813.3:c.363G>A ENSP00000274813.3:p.Lys121=
NM_000255.3:c.363G>A NP_000246.2:p.Lys121=
XM_005249143.2:c.363G>A XP_005249200.1:p.Lys121=
XM_005249143.3:c.363G>A XP_005249200.1:p.Lys121=
NM_000255.4:c.363G>A MANE Select NP_000246.2:p.Lys121=
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