Canonical Allele Identifier: CA364405286

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1016633
• ClinVar RCV Id: RCV001315666 ; RCV001835563 ; RCV002493648
• dbSNP Id: rs1252414363
• gnomAD v3: 6-49459240-C-T
• gnomAD v4: 6-49459240-C-T
• MyVariant Identifiers: chr6:g.49426953C>T (hg19) ; chr6:g.49459240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459240C>T , CM000668.2:g.49459240C>T	GRCh38
NC_000006.11:g.49426953C>T , CM000668.1:g.49426953C>T	GRCh37
NC_000006.10:g.49534912C>T	NCBI36
NG_007100.1:g.8900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.227G>A MANE Select	ENSP00000274813.3:p.Arg76Lys
ENST00000274813.3:c.227G>A	ENSP00000274813.3:p.Arg76Lys
NM_000255.3:c.227G>A	NP_000246.2:p.Arg76Lys
XM_005249143.2:c.227G>A	XP_005249200.1:p.Arg76Lys
XM_005249143.3:c.227G>A	XP_005249200.1:p.Arg76Lys
NM_000255.4:c.227G>A MANE Select	NP_000246.2:p.Arg76Lys