Canonical Allele Identifier: CA312764

Gene: MMUT

Linked Data

• ClinVar Variation Id: 203846
• ClinVar RCV Id: RCV000186046 ; RCV000203318 ; RCV001192655 ; RCV001271709
• dbSNP Id: rs564069299
• ExAC: 6:49419405 C / T
• gnomAD v2: 6-49419405-C-T
• gnomAD v3: 6-49451692-C-T
• gnomAD v4: 6-49451692-C-T
• COSMIC: COSM2152418
• MyVariant Identifiers: chr6:g.49419405C>T (hg19) ; chr6:g.49451692C>T (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451692C>T , CM000668.2:g.49451692C>T	GRCh38
NC_000006.11:g.49419405C>T , CM000668.1:g.49419405C>T	GRCh37
NC_000006.10:g.49527364C>T	NCBI36
NG_007100.1:g.16448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1106G>A MANE Select	ENSP00000274813.3:p.Arg369His
ENST00000274813.3:c.1106G>A	ENSP00000274813.3:p.Arg369His
NM_000255.3:c.1106G>A	NP_000246.2:p.Arg369His
XM_005249143.2:c.1106G>A	XP_005249200.1:p.Arg369His
XM_005249143.3:c.1106G>A	XP_005249200.1:p.Arg369His
NM_000255.4:c.1106G>A MANE Select	NP_000246.2:p.Arg369His