Canonical Allele Identifier: CA312777

Gene: MMUT

Linked Data

• ClinVar Variation Id: 203854
• ClinVar RCV Id: RCV000186054 ; RCV000585983 ; RCV000203406 ; RCV001271719 ; RCV001814093
• dbSNP Id: rs760782399
• ExAC: 6:49425585 G / T
• gnomAD v2: 6-49425585-G-T
• gnomAD v3: 6-49457872-G-T
• gnomAD v4: 6-49457872-G-T
• MyVariant Identifiers: chr6:g.49425585G>T (hg19) ; chr6:g.49457872G>T (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457872G>T , CM000668.2:g.49457872G>T	GRCh38
NC_000006.11:g.49425585G>T , CM000668.1:g.49425585G>T	GRCh37
NC_000006.10:g.49533544G>T	NCBI36
NG_007100.1:g.10268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.572C>A MANE Select	ENSP00000274813.3:p.Ala191Glu
ENST00000274813.3:c.572C>A	ENSP00000274813.3:p.Ala191Glu
NM_000255.3:c.572C>A	NP_000246.2:p.Ala191Glu
XM_005249143.2:c.572C>A	XP_005249200.1:p.Ala191Glu
XM_005249143.3:c.572C>A	XP_005249200.1:p.Ala191Glu
NM_000255.4:c.572C>A MANE Select	NP_000246.2:p.Ala191Glu