Canonical Allele Identifier: CA249732

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1887
• ClinVar RCV Id: RCV000001964 ; RCV000203340 ; RCV001376644 ; RCV001192656 ; RCV001271723 ; RCV004018538
• dbSNP Id: rs121918257
• ExAC: 6:49426858 G / A
• gnomAD v2: 6-49426858-G-A
• gnomAD v3: 6-49459145-G-A
• gnomAD v4: 6-49459145-G-A
• MyVariant Identifiers: chr6:g.49426858G>A (hg19) ; chr6:g.49459145G>A (hg38)
• PubMed: PMID:16281286 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459145G>A , CM000668.2:g.49459145G>A	GRCh38
NC_000006.11:g.49426858G>A , CM000668.1:g.49426858G>A	GRCh37
NC_000006.10:g.49534817G>A	NCBI36
NG_007100.1:g.8995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.322C>T MANE Select	ENSP00000274813.3:p.Arg108Cys
ENST00000274813.3:c.322C>T	ENSP00000274813.3:p.Arg108Cys
NM_000255.3:c.322C>T	NP_000246.2:p.Arg108Cys
XM_005249143.2:c.322C>T	XP_005249200.1:p.Arg108Cys
XM_005249143.3:c.322C>T	XP_005249200.1:p.Arg108Cys
NM_000255.4:c.322C>T MANE Select	NP_000246.2:p.Arg108Cys