Canonical Allele Identifier: CA3846951

Gene: MMUT

Linked Data

• ClinVar Variation Id: 3178035
• ClinVar RCV Id: RCV004472424
• dbSNP Id: rs754742219
• ExAC: 6:49419375 A / C
• gnomAD v2: 6-49419375-A-C
• gnomAD v4: 6-49451662-A-C
• MyVariant Identifiers: chr6:g.49419375A>C (hg19) ; chr6:g.49451662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451662A>C , CM000668.2:g.49451662A>C	GRCh38
NC_000006.11:g.49419375A>C , CM000668.1:g.49419375A>C	GRCh37
NC_000006.10:g.49527334A>C	NCBI36
NG_007100.1:g.16478T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1136T>G MANE Select	ENSP00000274813.3:p.Phe379Cys
ENST00000274813.3:c.1136T>G	ENSP00000274813.3:p.Phe379Cys
NM_000255.3:c.1136T>G	NP_000246.2:p.Phe379Cys
XM_005249143.2:c.1136T>G	XP_005249200.1:p.Phe379Cys
XM_005249143.3:c.1136T>G	XP_005249200.1:p.Phe379Cys
NM_000255.4:c.1136T>G MANE Select	NP_000246.2:p.Phe379Cys