Canonical Allele Identifier: CA364404815
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 638964
ClinVar RCV Id: RCV001297506
dbSNP Id: rs766605891
gnomAD v4: 6-49458049-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458049T>A , CM000668.2:g.49458049T>A GRCh38
NC_000006.11:g.49425762T>A , CM000668.1:g.49425762T>A GRCh37
NC_000006.10:g.49533721T>A NCBI36
NG_007100.1:g.10091A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.395A>T MANE Select ENSP00000274813.3:p.Gln132Leu
ENST00000274813.3:c.395A>T ENSP00000274813.3:p.Gln132Leu
NM_000255.3:c.395A>T NP_000246.2:p.Gln132Leu
XM_005249143.2:c.395A>T XP_005249200.1:p.Gln132Leu
XM_005249143.3:c.395A>T XP_005249200.1:p.Gln132Leu
NM_000255.4:c.395A>T MANE Select NP_000246.2:p.Gln132Leu