Canonical Allele Identifier: CA138795792
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs930646587
gnomAD v2: 6-49415586-A-G
gnomAD v3: 6-49447873-A-G
gnomAD v4: 6-49447873-A-G
MyVariant Identifiers: chr6:g.49415586A>G (hg19) chr6:g.49447873A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447873A>G , CM000668.2:g.49447873A>G GRCh38
NC_000006.11:g.49415586A>G , CM000668.1:g.49415586A>G GRCh37
NC_000006.10:g.49523545A>G NCBI36
NG_007100.1:g.20267T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1445-88T>C MANE Select ENSP00000274813.3:n.1445-88T>C
ENST00000274813.3:c.1445-88T>C ENSP00000274813.3:n.1445-88T>C
NM_000255.3:c.1445-88T>C NP_000246.2:n.1445-88T>C
XM_005249143.2:c.1445-88T>C XP_005249200.1:n.1445-88T>C
XM_005249143.3:c.1445-88T>C XP_005249200.1:n.1445-88T>C
NM_000255.4:c.1445-88T>C MANE Select NP_000246.2:n.1445-88T>C
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