Canonical Allele Identifier: CA3846974

Gene: MMUT

Linked Data

• ClinVar Variation Id: 495775
• ClinVar RCV Id: RCV000586630 ; RCV003558446
• dbSNP Id: rs746085723
• ExAC: 6:49421296 A / T
• gnomAD v2: 6-49421296-A-T
• gnomAD v3: 6-49453583-A-T
• gnomAD v4: 6-49453583-A-T
• MyVariant Identifiers: chr6:g.49421296A>T (hg19) ; chr6:g.49453583A>T (hg38)
• PubMed: PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49453583A>T , CM000668.2:g.49453583A>T	GRCh38
NC_000006.11:g.49421296A>T , CM000668.1:g.49421296A>T	GRCh37
NC_000006.10:g.49529255A>T	NCBI36
NG_007100.1:g.14557T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1083+2T>A MANE Select	ENSP00000274813.3:n.1083+2T>A
ENST00000274813.3:c.1083+2T>A	ENSP00000274813.3:n.1083+2T>A
NM_000255.3:c.1083+2T>A	NP_000246.2:n.1083+2T>A
XM_005249143.2:c.1083+2T>A	XP_005249200.1:n.1083+2T>A
XM_005249143.3:c.1083+2T>A	XP_005249200.1:n.1083+2T>A
NM_000255.4:c.1083+2T>A MANE Select	NP_000246.2:n.1083+2T>A