Canonical Allele Identifier: CA3846891
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs200850870
ExAC: 6:49416568 C / T
gnomAD v2: 6-49416568-C-T
gnomAD v4: 6-49448855-C-T
MyVariant Identifiers: chr6:g.49416568C>T (hg19) chr6:g.49448855C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49448855C>T , CM000668.2:g.49448855C>T GRCh38
NC_000006.11:g.49416568C>T , CM000668.1:g.49416568C>T GRCh37
NC_000006.10:g.49524527C>T NCBI36
NG_007100.1:g.19285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1405G>A MANE Select ENSP00000274813.3:p.Glu469Lys
ENST00000274813.3:c.1405G>A ENSP00000274813.3:p.Glu469Lys
NM_000255.3:c.1405G>A NP_000246.2:p.Glu469Lys
XM_005249143.2:c.1405G>A XP_005249200.1:p.Glu469Lys
XM_005249143.3:c.1405G>A XP_005249200.1:p.Glu469Lys
NM_000255.4:c.1405G>A MANE Select NP_000246.2:p.Glu469Lys
Search 100 bp 5'
Search 100 bp 3'