Canonical Allele Identifier: CA249727

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1878
• ClinVar RCV Id: RCV000001955 ; RCV000203407 ; RCV000374459 ; RCV001271724 ; RCV003114172
• dbSNP Id: rs121918249
• gnomAD v2: 6-49426867-A-G
• gnomAD v3: 6-49459154-A-G
• gnomAD v4: 6-49459154-A-G
• MyVariant Identifiers: chr6:g.49426867A>G (hg19) ; chr6:g.49459154A>G (hg38)
• PubMed: PMID:1977311 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459154A>G , CM000668.2:g.49459154A>G	GRCh38
NC_000006.11:g.49426867A>G , CM000668.1:g.49426867A>G	GRCh37
NC_000006.10:g.49534826A>G	NCBI36
NG_007100.1:g.8986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.313T>C MANE Select	ENSP00000274813.3:p.Trp105Arg
ENST00000274813.3:c.313T>C	ENSP00000274813.3:p.Trp105Arg
NM_000255.3:c.313T>C	NP_000246.2:p.Trp105Arg
XM_005249143.2:c.313T>C	XP_005249200.1:p.Trp105Arg
XM_005249143.3:c.313T>C	XP_005249200.1:p.Trp105Arg
NM_000255.4:c.313T>C MANE Select	NP_000246.2:p.Trp105Arg