Canonical Allele Identifier: CA235523
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 100708
ClinVar RCV Id: RCV000162232
dbSNP Id: rs483352783
gnomAD v4: 6-49459073-A-G
MyVariant Identifiers: chr6:g.49426786A>G (hg19) chr6:g.49459073A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459073A>G , CM000668.2:g.49459073A>G GRCh38
NC_000006.11:g.49426786A>G , CM000668.1:g.49426786A>G GRCh37
NC_000006.10:g.49534745A>G NCBI36
NG_007100.1:g.9067T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+9T>C MANE Select ENSP00000274813.3:n.385+9T>C
ENST00000274813.3:c.385+9T>C ENSP00000274813.3:n.385+9T>C
NM_000255.3:c.385+9T>C NP_000246.2:n.385+9T>C
XM_005249143.2:c.385+9T>C XP_005249200.1:n.385+9T>C
XM_005249143.3:c.385+9T>C XP_005249200.1:n.385+9T>C
NM_000255.4:c.385+9T>C MANE Select NP_000246.2:n.385+9T>C
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