Canonical Allele Identifier: CA364398009
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs145677661
gnomAD v4: 6-49448858-T-A
MyVariant Identifiers: chr6:g.49416571T>A (hg19) chr6:g.49448858T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49448858T>A , CM000668.2:g.49448858T>A GRCh38
NC_000006.11:g.49416571T>A , CM000668.1:g.49416571T>A GRCh37
NC_000006.10:g.49524530T>A NCBI36
NG_007100.1:g.19282A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1402A>T MANE Select ENSP00000274813.3:p.Ile468Phe
ENST00000274813.3:c.1402A>T ENSP00000274813.3:p.Ile468Phe
NM_000255.3:c.1402A>T NP_000246.2:p.Ile468Phe
XM_005249143.2:c.1402A>T XP_005249200.1:p.Ile468Phe
XM_005249143.3:c.1402A>T XP_005249200.1:p.Ile468Phe
NM_000255.4:c.1402A>T MANE Select NP_000246.2:p.Ile468Phe
Search 100 bp 5'
Search 100 bp 3'