Canonical Allele Identifier: CA3847056

Gene: MMUT

Linked Data

• ClinVar Variation Id: 3061795
• ClinVar RCV Id: RCV003983778
• dbSNP Id: rs776400008
• ExAC: 6:49425401 T / C
• gnomAD v2: 6-49425401-T-C
• gnomAD v4: 6-49457688-T-C
• MyVariant Identifiers: chr6:g.49425401T>C (hg19) ; chr6:g.49457688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457688T>C , CM000668.2:g.49457688T>C	GRCh38
NC_000006.11:g.49425401T>C , CM000668.1:g.49425401T>C	GRCh37
NC_000006.10:g.49533360T>C	NCBI36
NG_007100.1:g.10452A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.753+3A>G MANE Select	ENSP00000274813.3:n.753+3A>G
ENST00000274813.3:c.753+3A>G	ENSP00000274813.3:n.753+3A>G
NM_000255.3:c.753+3A>G	NP_000246.2:n.753+3A>G
XM_005249143.2:c.753+3A>G	XP_005249200.1:n.753+3A>G
XM_005249143.3:c.753+3A>G	XP_005249200.1:n.753+3A>G
NM_000255.4:c.753+3A>G MANE Select	NP_000246.2:n.753+3A>G