Canonical Allele Identifier: CA347895

Gene: MMUT

Linked Data

• ClinVar Variation Id: 218989
• ClinVar RCV Id: RCV000203377 ; RCV000414057 ; RCV001193325 ; RCV001271710
• dbSNP Id: rs772552898
• ExAC: 6:49419406 G / A
• gnomAD v2: 6-49419406-G-A
• gnomAD v3: 6-49451693-G-A
• gnomAD v4: 6-49451693-G-A
• MyVariant Identifiers: chr6:g.49419406G>A (hg19) ; chr6:g.49451693G>A (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451693G>A , CM000668.2:g.49451693G>A	GRCh38
NC_000006.11:g.49419406G>A , CM000668.1:g.49419406G>A	GRCh37
NC_000006.10:g.49527365G>A	NCBI36
NG_007100.1:g.16447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1105C>T MANE Select	ENSP00000274813.3:p.Arg369Cys
ENST00000274813.3:c.1105C>T	ENSP00000274813.3:p.Arg369Cys
NM_000255.3:c.1105C>T	NP_000246.2:p.Arg369Cys
XM_005249143.2:c.1105C>T	XP_005249200.1:p.Arg369Cys
XM_005249143.3:c.1105C>T	XP_005249200.1:p.Arg369Cys
NM_000255.4:c.1105C>T MANE Select	NP_000246.2:p.Arg369Cys