Canonical Allele Identifier: CA312762

Gene: MMUT

Linked Data

• ClinVar Variation Id: 203844
• ClinVar RCV Id: RCV000666436 ; RCV000589433 ; RCV001376629 ; RCV001835712
• dbSNP Id: rs796052002
• gnomAD v3: 6-49453686-G-A
• gnomAD v4: 6-49453686-G-A
• MyVariant Identifiers: chr6:g.49421399G>A (hg19) ; chr6:g.49453686G>A (hg38)
• PubMed: PMID:15643616 ; PMID:22727635

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49453686G>A , CM000668.2:g.49453686G>A	GRCh38
NC_000006.11:g.49421399G>A , CM000668.1:g.49421399G>A	GRCh37
NC_000006.10:g.49529358G>A	NCBI36
NG_007100.1:g.14454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.982C>T MANE Select	ENSP00000274813.3:p.Leu328Phe
ENST00000274813.3:c.982C>T	ENSP00000274813.3:p.Leu328Phe
NM_000255.3:c.982C>T	NP_000246.2:p.Leu328Phe
XM_005249143.2:c.982C>T	XP_005249200.1:p.Leu328Phe
XM_005249143.3:c.982C>T	XP_005249200.1:p.Leu328Phe
NM_000255.4:c.982C>T MANE Select	NP_000246.2:p.Leu328Phe