Canonical Allele Identifier: CA10624264
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 357253
ClinVar RCV Id: RCV000350819
dbSNP Id: rs868855862
gnomAD v3: 6-49431685-C-A
gnomAD v4: 6-49431685-C-A
MyVariant Identifiers: chr6:g.49399398C>A (hg19) chr6:g.49431685C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431685C>A , CM000668.2:g.49431685C>A GRCh38
NC_000006.11:g.49399398C>A , CM000668.1:g.49399398C>A GRCh37
NC_000006.10:g.49507357C>A NCBI36
NG_007100.1:g.36455G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.*43G>T MANE Select ENSP00000274813.3:n.*43G>T
ENST00000274813.3:c.*43G>T ENSP00000274813.3:n.*43G>T
NM_000255.3:c.*43G>T NP_000246.2:n.*43G>T
XM_005249143.2:c.*43G>T XP_005249200.1:n.*43G>T
XM_005249143.3:c.*43G>T XP_005249200.1:n.*43G>T
NM_000255.4:c.*43G>T MANE Select NP_000246.2:n.*43G>T
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Search 100 bp 3'