Canonical Allele Identifier: CA347872

Gene: MMUT

Linked Data

• ClinVar Variation Id: 218987
• ClinVar RCV Id: RCV000203339 ; RCV001091103 ; RCV003317150 ; RCV001833168
• dbSNP Id: rs778702777
• ExAC: 6:49425550 C / T
• gnomAD v2: 6-49425550-C-T
• gnomAD v3: 6-49457837-C-T
• gnomAD v4: 6-49457837-C-T
• MyVariant Identifiers: chr6:g.49425550C>T (hg19) ; chr6:g.49457837C>T (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457837C>T , CM000668.2:g.49457837C>T	GRCh38
NC_000006.11:g.49425550C>T , CM000668.1:g.49425550C>T	GRCh37
NC_000006.10:g.49533509C>T	NCBI36
NG_007100.1:g.10303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.607G>A MANE Select	ENSP00000274813.3:p.Gly203Arg
ENST00000274813.3:c.607G>A	ENSP00000274813.3:p.Gly203Arg
NM_000255.3:c.607G>A	NP_000246.2:p.Gly203Arg
XM_005249143.2:c.607G>A	XP_005249200.1:p.Gly203Arg
XM_005249143.3:c.607G>A	XP_005249200.1:p.Gly203Arg
NM_000255.4:c.607G>A MANE Select	NP_000246.2:p.Gly203Arg