Canonical Allele Identifier: CA312780
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 203856
ClinVar RCV Id: RCV000672182 RCV000781610 RCV001852417
dbSNP Id: rs796052006
gnomAD v2: 6-49425402-A-T
gnomAD v4: 6-49457689-A-T
MyVariant Identifiers: chr6:g.49425402A>T (hg19) chr6:g.49457689A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457689A>T , CM000668.2:g.49457689A>T GRCh38
NC_000006.11:g.49425402A>T , CM000668.1:g.49425402A>T GRCh37
NC_000006.10:g.49533361A>T NCBI36
NG_007100.1:g.10451T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.753+2T>A MANE Select ENSP00000274813.3:n.753+2T>A
ENST00000274813.3:c.753+2T>A ENSP00000274813.3:n.753+2T>A
NM_000255.3:c.753+2T>A NP_000246.2:n.753+2T>A
XM_005249143.2:c.753+2T>A XP_005249200.1:n.753+2T>A
XM_005249143.3:c.753+2T>A XP_005249200.1:n.753+2T>A
NM_000255.4:c.753+2T>A MANE Select NP_000246.2:n.753+2T>A
Search 100 bp 5'
Search 100 bp 3'