Canonical Allele Identifier: CA249729

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1881
• ClinVar RCV Id: RCV000001958 ; RCV000078445 ; RCV000174456 ; RCV000781613 ; RCV001276629
• dbSNP Id: rs121918252
• ExAC: 6:49399544 C / A
• gnomAD v2: 6-49399544-C-A
• gnomAD v3: 6-49431831-C-A
• gnomAD v4: 6-49431831-C-A
• MyVariant Identifiers: chr6:g.49399544C>A (hg19) ; chr6:g.49431831C>A (hg38)
• PubMed: PMID:1346616 ; PMID:1351030 ; PMID:1968706 ; PMID:16281286 ; PMID:20301409 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49431831C>A , CM000668.2:g.49431831C>A	GRCh38
NC_000006.11:g.49399544C>A , CM000668.1:g.49399544C>A	GRCh37
NC_000006.10:g.49507503C>A	NCBI36
NG_007100.1:g.36309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.2150G>T MANE Select	ENSP00000274813.3:p.Gly717Val
ENST00000274813.3:c.2150G>T	ENSP00000274813.3:p.Gly717Val
NM_000255.3:c.2150G>T	NP_000246.2:p.Gly717Val
XM_005249143.2:c.2150G>T	XP_005249200.1:p.Gly717Val
XM_005249143.3:c.2150G>T	XP_005249200.1:p.Gly717Val
NM_000255.4:c.2150G>T MANE Select	NP_000246.2:p.Gly717Val