Canonical Allele Identifier: CA234291
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 167312
dbSNP Id: rs727504022
gnomAD v2: 6-49426900-C-T
gnomAD v4: 6-49459187-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459187C>T , CM000668.2:g.49459187C>T GRCh38
NC_000006.11:g.49426900C>T , CM000668.1:g.49426900C>T GRCh37
NC_000006.10:g.49534859C>T NCBI36
NG_007100.1:g.8953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.280G>A MANE Select ENSP00000274813.3:p.Gly94Arg
ENST00000274813.3:c.280G>A ENSP00000274813.3:p.Gly94Arg
NM_000255.3:c.280G>A NP_000246.2:p.Gly94Arg
XM_005249143.2:c.280G>A XP_005249200.1:p.Gly94Arg
XM_005249143.3:c.280G>A XP_005249200.1:p.Gly94Arg
NM_000255.4:c.280G>A MANE Select NP_000246.2:p.Gly94Arg