Canonical Allele Identifier: CA3846982

Gene: MMUT

Linked Data

• ClinVar Variation Id: 495777
• ClinVar RCV Id: RCV000587657 ; RCV000665393 ; RCV001389293
• dbSNP Id: rs770466993
• ExAC: 6:49421356 G / T
• gnomAD v2: 6-49421356-G-T
• gnomAD v4: 6-49453643-G-T
• MyVariant Identifiers: chr6:g.49421356G>T (hg19) ; chr6:g.49453643G>T (hg38)
• PubMed: PMID:15643616 ; PMID:19375370 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49453643G>T , CM000668.2:g.49453643G>T	GRCh38
NC_000006.11:g.49421356G>T , CM000668.1:g.49421356G>T	GRCh37
NC_000006.10:g.49529315G>T	NCBI36
NG_007100.1:g.14497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1025C>A MANE Select	ENSP00000274813.3:p.Ser342Ter
ENST00000274813.3:c.1025C>A	ENSP00000274813.3:p.Ser342Ter
NM_000255.3:c.1025C>A	NP_000246.2:p.Ser342Ter
XM_005249143.2:c.1025C>A	XP_005249200.1:p.Ser342Ter
XM_005249143.3:c.1025C>A	XP_005249200.1:p.Ser342Ter
NM_000255.4:c.1025C>A MANE Select	NP_000246.2:p.Ser342Ter