Canonical Allele Identifier: CA249729
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1881
dbSNP Id: rs121918252
gnomAD v2: 6-49399544-C-A
gnomAD v3: 6-49431831-C-A
gnomAD v4: 6-49431831-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431831C>A , CM000668.2:g.49431831C>A GRCh38
NC_000006.11:g.49399544C>A , CM000668.1:g.49399544C>A GRCh37
NC_000006.10:g.49507503C>A NCBI36
NG_007100.1:g.36309G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2150G>T MANE Select ENSP00000274813.3:p.Gly717Val
ENST00000274813.3:c.2150G>T ENSP00000274813.3:p.Gly717Val
NM_000255.3:c.2150G>T NP_000246.2:p.Gly717Val
XM_005249143.2:c.2150G>T XP_005249200.1:p.Gly717Val
XM_005249143.3:c.2150G>T XP_005249200.1:p.Gly717Val
NM_000255.4:c.2150G>T MANE Select NP_000246.2:p.Gly717Val