Canonical Allele Identifier: CA364398807
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 3178085
ClinVar RCV Id: RCV004472474
MyVariant Identifiers: chr6:g.49419267T>A (hg19) chr6:g.49451554T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451554T>A , CM000668.2:g.49451554T>A GRCh38
NC_000006.11:g.49419267T>A , CM000668.1:g.49419267T>A GRCh37
NC_000006.10:g.49527226T>A NCBI36
NG_007100.1:g.16586A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1244A>T MANE Select ENSP00000274813.3:p.Glu415Val
ENST00000274813.3:c.1244A>T ENSP00000274813.3:p.Glu415Val
NM_000255.3:c.1244A>T NP_000246.2:p.Glu415Val
XM_005249143.2:c.1244A>T XP_005249200.1:p.Glu415Val
XM_005249143.3:c.1244A>T XP_005249200.1:p.Glu415Val
NM_000255.4:c.1244A>T MANE Select NP_000246.2:p.Glu415Val
Search 100 bp 5'
Search 100 bp 3'