Canonical Allele Identifier: CA364406017
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs761773115
gnomAD v3: 6-49459448-G-C
gnomAD v4: 6-49459448-G-C
MyVariant Identifiers: chr6:g.49427161G>C (hg19) chr6:g.49459448G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459448G>C , CM000668.2:g.49459448G>C GRCh38
NC_000006.11:g.49427161G>C , CM000668.1:g.49427161G>C GRCh37
NC_000006.10:g.49535120G>C NCBI36
NG_007100.1:g.8692C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.19C>G MANE Select ENSP00000274813.3:p.Gln7Glu
ENST00000274813.3:c.19C>G ENSP00000274813.3:p.Gln7Glu
NM_000255.3:c.19C>G NP_000246.2:p.Gln7Glu
XM_005249143.2:c.19C>G XP_005249200.1:p.Gln7Glu
XM_005249143.3:c.19C>G XP_005249200.1:p.Gln7Glu
NM_000255.4:c.19C>G MANE Select NP_000246.2:p.Gln7Glu
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