Canonical Allele Identifier: CA249725
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1877
dbSNP Id: rs121918248
gnomAD v2: 6-49427128-G-A
gnomAD v3: 6-49459415-G-A
gnomAD v4: 6-49459415-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459415G>A , CM000668.2:g.49459415G>A GRCh38
NC_000006.11:g.49427128G>A , CM000668.1:g.49427128G>A GRCh37
NC_000006.10:g.49535087G>A NCBI36
NG_007100.1:g.8725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.52C>T MANE Select ENSP00000274813.3:p.Gln18Ter
ENST00000274813.3:c.52C>T ENSP00000274813.3:p.Gln18Ter
NM_000255.3:c.52C>T NP_000246.2:p.Gln18Ter
XM_005249143.2:c.52C>T XP_005249200.1:p.Gln18Ter
XM_005249143.3:c.52C>T XP_005249200.1:p.Gln18Ter
NM_000255.4:c.52C>T MANE Select NP_000246.2:p.Gln18Ter