Canonical Allele Identifier: CA234291

Gene: MMUT

Linked Data

• ClinVar Variation Id: 167312
• ClinVar RCV Id: RCV000175567 ; RCV001831956 ; RCV001535925 ; RCV002307410
• dbSNP Id: rs727504022
• ExAC: 6:49426900 C / T
• gnomAD v2: 6-49426900-C-T
• gnomAD v4: 6-49459187-C-T
• MyVariant Identifiers: chr6:g.49426900C>T (hg19) ; chr6:g.49459187C>T (hg38)

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