Canonical Allele Identifier: CA347907

Gene: MMUT

Linked Data

• ClinVar Variation Id: 218996
• ClinVar RCV Id: RCV000203399 ; RCV000589534 ; RCV001376607 ; RCV001833170
• dbSNP Id: rs777758903
• ExAC: 6:49403213 G / A
• gnomAD v2: 6-49403213-G-A
• gnomAD v3: 6-49435500-G-A
• gnomAD v4: 6-49435500-G-A
• MyVariant Identifiers: chr6:g.49403213G>A (hg19) ; chr6:g.49435500G>A (hg38)
• PubMed: PMID:20301409 ; PMID:26615597

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49435500G>A , CM000668.2:g.49435500G>A	GRCh38
NC_000006.11:g.49403213G>A , CM000668.1:g.49403213G>A	GRCh37
NC_000006.10:g.49511172G>A	NCBI36
NG_007100.1:g.32640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.2080C>T MANE Select	ENSP00000274813.3:p.Arg694Trp
ENST00000274813.3:c.2080C>T	ENSP00000274813.3:p.Arg694Trp
NM_000255.3:c.2080C>T	NP_000246.2:p.Arg694Trp
XM_005249143.2:c.2080C>T	XP_005249200.1:p.Arg694Trp
XM_005249143.3:c.2080C>T	XP_005249200.1:p.Arg694Trp
NM_000255.4:c.2080C>T MANE Select	NP_000246.2:p.Arg694Trp