Canonical Allele Identifier: CA312765

Gene: MMUT

Linked Data

• ClinVar Variation Id: 203847
• ClinVar RCV Id: RCV000186047
• dbSNP Id: rs368790885
• ExAC: 6:49419403 T / G
• gnomAD v2: 6-49419403-T-G
• gnomAD v3: 6-49451690-T-G
• gnomAD v4: 6-49451690-T-G
• MyVariant Identifiers: chr6:g.49419403T>G (hg19) ; chr6:g.49451690T>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451690T>G , CM000668.2:g.49451690T>G	GRCh38
NC_000006.11:g.49419403T>G , CM000668.1:g.49419403T>G	GRCh37
NC_000006.10:g.49527362T>G	NCBI36
NG_007100.1:g.16450A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1108A>C MANE Select	ENSP00000274813.3:p.Thr370Pro
ENST00000274813.3:c.1108A>C	ENSP00000274813.3:p.Thr370Pro
NM_000255.3:c.1108A>C	NP_000246.2:p.Thr370Pro
XM_005249143.2:c.1108A>C	XP_005249200.1:p.Thr370Pro
XM_005249143.3:c.1108A>C	XP_005249200.1:p.Thr370Pro
NM_000255.4:c.1108A>C MANE Select	NP_000246.2:p.Thr370Pro