Canonical Allele Identifier: CA364397113
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49447687-T-C
MyVariant Identifiers: chr6:g.49415400T>C (hg19) chr6:g.49447687T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447687T>C , CM000668.2:g.49447687T>C GRCh38
NC_000006.11:g.49415400T>C , CM000668.1:g.49415400T>C GRCh37
NC_000006.10:g.49523359T>C NCBI36
NG_007100.1:g.20453A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1543A>G MANE Select ENSP00000274813.3:p.Ile515Val
ENST00000274813.3:c.1543A>G ENSP00000274813.3:p.Ile515Val
NM_000255.3:c.1543A>G NP_000246.2:p.Ile515Val
XM_005249143.2:c.1543A>G XP_005249200.1:p.Ile515Val
XM_005249143.3:c.1543A>G XP_005249200.1:p.Ile515Val
NM_000255.4:c.1543A>G MANE Select NP_000246.2:p.Ile515Val
Search 100 bp 5'
Search 100 bp 3'