Canonical Allele Identifier: CA825482182
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1324362376
gnomAD v3: 6-49457662-G-A
gnomAD v4: 6-49457662-G-A
MyVariant Identifiers: chr6:g.49425375G>A (hg19) chr6:g.49457662G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457662G>A , CM000668.2:g.49457662G>A GRCh38
NC_000006.11:g.49425375G>A , CM000668.1:g.49425375G>A GRCh37
NC_000006.10:g.49533334G>A NCBI36
NG_007100.1:g.10478C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.753+29C>T MANE Select ENSP00000274813.3:n.753+29C>T
ENST00000274813.3:c.753+29C>T ENSP00000274813.3:n.753+29C>T
NM_000255.3:c.753+29C>T NP_000246.2:n.753+29C>T
XM_005249143.2:c.753+29C>T XP_005249200.1:n.753+29C>T
XM_005249143.3:c.753+29C>T XP_005249200.1:n.753+29C>T
NM_000255.4:c.753+29C>T MANE Select NP_000246.2:n.753+29C>T
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