Canonical Allele Identifier: CA347913

Gene: MMUT

Linked Data

• ClinVar Variation Id: 218998
• ClinVar RCV Id: RCV000203410 ; RCV000725155 ; RCV001276628 ; RCV001193329 ; RCV001814114
• dbSNP Id: rs779990936
• ExAC: 6:49399515 G / A
• gnomAD v2: 6-49399515-G-A
• gnomAD v3: 6-49431802-G-A
• gnomAD v4: 6-49431802-G-A
• MyVariant Identifiers: chr6:g.49399515G>A (hg19) ; chr6:g.49431802G>A (hg38)
• PubMed: PMID:17075691 ; PMID:20301409 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49431802G>A , CM000668.2:g.49431802G>A	GRCh38
NC_000006.11:g.49399515G>A , CM000668.1:g.49399515G>A	GRCh37
NC_000006.10:g.49507474G>A	NCBI36
NG_007100.1:g.36338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.2179C>T MANE Select	ENSP00000274813.3:p.Arg727Ter
ENST00000274813.3:c.2179C>T	ENSP00000274813.3:p.Arg727Ter
NM_000255.3:c.2179C>T	NP_000246.2:p.Arg727Ter
XM_005249143.2:c.2179C>T	XP_005249200.1:p.Arg727Ter
XM_005249143.3:c.2179C>T	XP_005249200.1:p.Arg727Ter
NM_000255.4:c.2179C>T MANE Select	NP_000246.2:p.Arg727Ter