Canonical Allele Identifier: CA3847163

Gene: MMUT

Linked Data

• ClinVar Variation Id: 235300
• ClinVar RCV Id: RCV000223962 ; RCV001271806 ; RCV001085527 ; RCV003929925
• dbSNP Id: rs115923556
• ExAC: 6:49426975 T / C
• gnomAD v2: 6-49426975-T-C
• gnomAD v3: 6-49459262-T-C
• gnomAD v4: 6-49459262-T-C
• COSMIC: COSM321835
• MyVariant Identifiers: chr6:g.49426975T>C (hg19) ; chr6:g.49459262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459262T>C , CM000668.2:g.49459262T>C	GRCh38
NC_000006.11:g.49426975T>C , CM000668.1:g.49426975T>C	GRCh37
NC_000006.10:g.49534934T>C	NCBI36
NG_007100.1:g.8878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.205A>G MANE Select	ENSP00000274813.3:p.Ile69Val
ENST00000274813.3:c.205A>G	ENSP00000274813.3:p.Ile69Val
NM_000255.3:c.205A>G	NP_000246.2:p.Ile69Val
XM_005249143.2:c.205A>G	XP_005249200.1:p.Ile69Val
XM_005249143.3:c.205A>G	XP_005249200.1:p.Ile69Val
NM_000255.4:c.205A>G MANE Select	NP_000246.2:p.Ile69Val