Canonical Allele Identifier: CA249743

Gene: MMUT

Linked Data

• ClinVar Variation Id: 92688
• ClinVar RCV Id: RCV000078448 ; RCV000175566 ; RCV000781612 ; RCV002251962 ; RCV001826711
• dbSNP Id: rs398123278
• ExAC: 6:49427089 G / A
• gnomAD v2: 6-49427089-G-A
• gnomAD v3: 6-49459376-G-A
• gnomAD v4: 6-49459376-G-A
• COSMIC: COSM3353925
• MyVariant Identifiers: chr6:g.49427089G>A (hg19) ; chr6:g.49459376G>A (hg38)
• PubMed: PMID:16281286 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459376G>A , CM000668.2:g.49459376G>A	GRCh38
NC_000006.11:g.49427089G>A , CM000668.1:g.49427089G>A	GRCh37
NC_000006.10:g.49535048G>A	NCBI36
NG_007100.1:g.8764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.91C>T MANE Select	ENSP00000274813.3:p.Arg31Ter
ENST00000274813.3:c.91C>T	ENSP00000274813.3:p.Arg31Ter
NM_000255.3:c.91C>T	NP_000246.2:p.Arg31Ter
XM_005249143.2:c.91C>T	XP_005249200.1:p.Arg31Ter
XM_005249143.3:c.91C>T	XP_005249200.1:p.Arg31Ter
NM_000255.4:c.91C>T MANE Select	NP_000246.2:p.Arg31Ter