Canonical Allele Identifier: CA347859

Gene: MMUT

Linked Data

• ClinVar Variation Id: 218984
• ClinVar RCV Id: RCV000203322 ; RCV001293610 ; RCV003556256
• dbSNP Id: rs761773115
• ExAC: 6:49427161 G / A
• gnomAD v2: 6-49427161-G-A
• MyVariant Identifiers: chr6:g.49427161G>A (hg19) ; chr6:g.49459448G>A (hg38)
• PubMed: PMID:15643616 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459448G>A , CM000668.2:g.49459448G>A	GRCh38
NC_000006.11:g.49427161G>A , CM000668.1:g.49427161G>A	GRCh37
NC_000006.10:g.49535120G>A	NCBI36
NG_007100.1:g.8692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.19C>T MANE Select	ENSP00000274813.3:p.Gln7Ter
ENST00000274813.3:c.19C>T	ENSP00000274813.3:p.Gln7Ter
NM_000255.3:c.19C>T	NP_000246.2:p.Gln7Ter
XM_005249143.2:c.19C>T	XP_005249200.1:p.Gln7Ter
XM_005249143.3:c.19C>T	XP_005249200.1:p.Gln7Ter
NM_000255.4:c.19C>T MANE Select	NP_000246.2:p.Gln7Ter