Canonical Allele Identifier: CA10575864

Gene: MMUT

Linked Data

• ClinVar Variation Id: 222934
• ClinVar RCV Id: RCV000236003
• dbSNP Id: rs879253844
• gnomAD v4: 6-49447741-C-A
• MyVariant Identifiers: chr6:g.49415454C>A (hg19) ; chr6:g.49447741C>A (hg38)
• PubMed: PMID:25736335 ; PMID:27167370

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447741C>A , CM000668.2:g.49447741C>A	GRCh38
NC_000006.11:g.49415454C>A , CM000668.1:g.49415454C>A	GRCh37
NC_000006.10:g.49523413C>A	NCBI36
NG_007100.1:g.20399G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1489G>T MANE Select	ENSP00000274813.3:p.Glu497Ter
ENST00000274813.3:c.1489G>T	ENSP00000274813.3:p.Glu497Ter
NM_000255.3:c.1489G>T	NP_000246.2:p.Glu497Ter
XM_005249143.2:c.1489G>T	XP_005249200.1:p.Glu497Ter
XM_005249143.3:c.1489G>T	XP_005249200.1:p.Glu497Ter
NM_000255.4:c.1489G>T MANE Select	NP_000246.2:p.Glu497Ter