Canonical Allele Identifier: CA10627090
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 357245
ClinVar RCV Id: RCV000361535 RCV001707678
dbSNP Id: rs182726681
gnomAD v2: 6-49399163-T-C
gnomAD v3: 6-49431450-T-C
gnomAD v4: 6-49431450-T-C
MyVariant Identifiers: chr6:g.49399163T>C (hg19) chr6:g.49431450T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431450T>C , CM000668.2:g.49431450T>C GRCh38
NC_000006.11:g.49399163T>C , CM000668.1:g.49399163T>C GRCh37
NC_000006.10:g.49507122T>C NCBI36
NG_007100.1:g.36690A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.*278A>G MANE Select ENSP00000274813.3:n.*278A>G
ENST00000274813.3:c.*278A>G ENSP00000274813.3:n.*278A>G
NM_000255.3:c.*278A>G NP_000246.2:n.*278A>G
XM_005249143.2:c.*278A>G XP_005249200.1:n.*278A>G
XM_005249143.3:c.*278A>G XP_005249200.1:n.*278A>G
NM_000255.4:c.*278A>G MANE Select NP_000246.2:n.*278A>G
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