Canonical Allele Identifier: CA3846893

Gene: MMUT

Linked Data

• ClinVar Variation Id: 495778
• ClinVar RCV Id: RCV000587544 ; RCV000664980 ; RCV001381507 ; RCV001271704
• dbSNP Id: rs774159791
• ExAC: 6:49416574 G / A
• gnomAD v2: 6-49416574-G-A
• gnomAD v3: 6-49448861-G-A
• gnomAD v4: 6-49448861-G-A
• COSMIC: COSM5585838
• MyVariant Identifiers: chr6:g.49416574G>A (hg19) ; chr6:g.49448861G>A (hg38)
• PubMed: PMID:12402345 ; PMID:15643616 ; PMID:22727635 ; PMID:23430940 ; PMID:25771389 ; PMID:26790480

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49448861G>A , CM000668.2:g.49448861G>A	GRCh38
NC_000006.11:g.49416574G>A , CM000668.1:g.49416574G>A	GRCh37
NC_000006.10:g.49524533G>A	NCBI36
NG_007100.1:g.19279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1399C>T MANE Select	ENSP00000274813.3:p.Arg467Ter
ENST00000274813.3:c.1399C>T	ENSP00000274813.3:p.Arg467Ter
NM_000255.3:c.1399C>T	NP_000246.2:p.Arg467Ter
XM_005249143.2:c.1399C>T	XP_005249200.1:p.Arg467Ter
XM_005249143.3:c.1399C>T	XP_005249200.1:p.Arg467Ter
NM_000255.4:c.1399C>T MANE Select	NP_000246.2:p.Arg467Ter