Canonical Allele Identifier: CA364583030
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49431829-C-T
MyVariant Identifiers: chr6:g.49399542C>T (hg19) chr6:g.49431829C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431829C>T , CM000668.2:g.49431829C>T GRCh38
NC_000006.11:g.49399542C>T , CM000668.1:g.49399542C>T GRCh37
NC_000006.10:g.49507501C>T NCBI36
NG_007100.1:g.36311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2152G>A MANE Select ENSP00000274813.3:p.Val718Ile
ENST00000274813.3:c.2152G>A ENSP00000274813.3:p.Val718Ile
NM_000255.3:c.2152G>A NP_000246.2:p.Val718Ile
XM_005249143.2:c.2152G>A XP_005249200.1:p.Val718Ile
XM_005249143.3:c.2152G>A XP_005249200.1:p.Val718Ile
NM_000255.4:c.2152G>A MANE Select NP_000246.2:p.Val718Ile
Search 100 bp 5'
Search 100 bp 3'