Canonical Allele Identifier: CA3847133

Gene: MMUT

Linked Data

• ClinVar Variation Id: 3178906
• ClinVar RCV Id: RCV004475278
• dbSNP Id: rs368780480
• ExAC: 6:49426814 G / C
• gnomAD v2: 6-49426814-G-C
• gnomAD v3: 6-49459101-G-C
• gnomAD v4: 6-49459101-G-C
• MyVariant Identifiers: chr6:g.49426814G>C (hg19) ; chr6:g.49459101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459101G>C , CM000668.2:g.49459101G>C	GRCh38
NC_000006.11:g.49426814G>C , CM000668.1:g.49426814G>C	GRCh37
NC_000006.10:g.49534773G>C	NCBI36
NG_007100.1:g.9039C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.366C>G MANE Select	ENSP00000274813.3:p.Phe122Leu
ENST00000274813.3:c.366C>G	ENSP00000274813.3:p.Phe122Leu
NM_000255.3:c.366C>G	NP_000246.2:p.Phe122Leu
XM_005249143.2:c.366C>G	XP_005249200.1:p.Phe122Leu
XM_005249143.3:c.366C>G	XP_005249200.1:p.Phe122Leu
NM_000255.4:c.366C>G MANE Select	NP_000246.2:p.Phe122Leu