Canonical Allele Identifier: CA249730

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1884
• ClinVar RCV Id: RCV000001961 ; RCV000203390 ; RCV000427444 ; RCV001276633 ; RCV002271364
• dbSNP Id: rs121918254
• ExAC: 6:49408008 C / T
• gnomAD v2: 6-49408008-C-T
• gnomAD v3: 6-49440295-C-T
• gnomAD v4: 6-49440295-C-T
• MyVariant Identifiers: chr6:g.49408008C>T (hg19) ; chr6:g.49440295C>T (hg38)
• PubMed: PMID:7909321 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49440295C>T , CM000668.2:g.49440295C>T	GRCh38
NC_000006.11:g.49408008C>T , CM000668.1:g.49408008C>T	GRCh37
NC_000006.10:g.49515967C>T	NCBI36
NG_007100.1:g.27845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1867G>A MANE Select	ENSP00000274813.3:p.Gly623Arg
ENST00000274813.3:c.1867G>A	ENSP00000274813.3:p.Gly623Arg
NM_000255.3:c.1867G>A	NP_000246.2:p.Gly623Arg
XM_005249143.2:c.1867G>A	XP_005249200.1:p.Gly623Arg
XM_005249143.3:c.1867G>A	XP_005249200.1:p.Gly623Arg
NM_000255.4:c.1867G>A MANE Select	NP_000246.2:p.Gly623Arg