Canonical Allele Identifier: CA249728

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1880
• ClinVar RCV Id: RCV000001957 ; RCV000175568 ; RCV000724019 ; RCV000780493
• dbSNP Id: rs121918251
• ExAC: 6:49426902 C / T
• gnomAD v2: 6-49426902-C-T
• gnomAD v3: 6-49459189-C-T
• gnomAD v4: 6-49459189-C-T
• COSMIC: COSM1444994
• MyVariant Identifiers: chr6:g.49426902C>T (hg19) ; chr6:g.49459189C>T (hg38)
• PubMed: PMID:1670635 ; PMID:8990001 ; PMID:20301409 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459189C>T , CM000668.2:g.49459189C>T	GRCh38
NC_000006.11:g.49426902C>T , CM000668.1:g.49426902C>T	GRCh37
NC_000006.10:g.49534861C>T	NCBI36
NG_007100.1:g.8951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.278G>A MANE Select	ENSP00000274813.3:p.Arg93His
ENST00000274813.3:c.278G>A	ENSP00000274813.3:p.Arg93His
NM_000255.3:c.278G>A	NP_000246.2:p.Arg93His
XM_005249143.2:c.278G>A	XP_005249200.1:p.Arg93His
XM_005249143.3:c.278G>A	XP_005249200.1:p.Arg93His
NM_000255.4:c.278G>A MANE Select	NP_000246.2:p.Arg93His