Canonical Allele Identifier: CA3847115

Gene: MMUT

Linked Data

• dbSNP Id: rs766605891
• ExAC: 6:49425762 T / C
• gnomAD v2: 6-49425762-T-C
• gnomAD v3: 6-49458049-T-C
• gnomAD v4: 6-49458049-T-C
• MyVariant Identifiers: chr6:g.49425762T>C (hg19) ; chr6:g.49458049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458049T>C , CM000668.2:g.49458049T>C	GRCh38
NC_000006.11:g.49425762T>C , CM000668.1:g.49425762T>C	GRCh37
NC_000006.10:g.49533721T>C	NCBI36
NG_007100.1:g.10091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.395A>G MANE Select	ENSP00000274813.3:p.Gln132Arg
ENST00000274813.3:c.395A>G	ENSP00000274813.3:p.Gln132Arg
NM_000255.3:c.395A>G	NP_000246.2:p.Gln132Arg
XM_005249143.2:c.395A>G	XP_005249200.1:p.Gln132Arg
XM_005249143.3:c.395A>G	XP_005249200.1:p.Gln132Arg
NM_000255.4:c.395A>G MANE Select	NP_000246.2:p.Gln132Arg