Canonical Allele Identifier: CA235522

Gene: MMUT

Linked Data

• ClinVar Variation Id: 100707
• ClinVar RCV Id: RCV000162231 ; RCV000502227 ; RCV000664555 ; RCV000781608 ; RCV001271722
• dbSNP Id: rs483352778
• ExAC: 6:49426857 C / T
• gnomAD v2: 6-49426857-C-T
• gnomAD v3: 6-49459144-C-T
• gnomAD v4: 6-49459144-C-T
• COSMIC: COSM1187051
• MyVariant Identifiers: chr6:g.49426857C>T (hg19) ; chr6:g.49426857_49426858delinsTG (hg19) ; chr6:g.49459144C>T (hg38) ; chr6:g.49459144_49459145delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459144C>T , CM000668.2:g.49459144C>T	GRCh38
NC_000006.11:g.49426857C>T , CM000668.1:g.49426857C>T	GRCh37
NC_000006.10:g.49534816C>T	NCBI36
NG_007100.1:g.8996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.323G>A MANE Select	ENSP00000274813.3:p.Arg108His
ENST00000274813.3:c.323G>A	ENSP00000274813.3:p.Arg108His
NM_000255.3:c.323G>A	NP_000246.2:p.Arg108His
XM_005249143.2:c.323G>A	XP_005249200.1:p.Arg108His
XM_005249143.3:c.323G>A	XP_005249200.1:p.Arg108His
NM_000255.4:c.323G>A MANE Select	NP_000246.2:p.Arg108His