Canonical Allele Identifier: CA115264

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1882
• ClinVar RCV Id: RCV000001959 ; RCV000670836 ; RCV001384465 ; RCV001826404
• dbSNP Id: rs121918253
• gnomAD v4: 6-49459118-C-A
• MyVariant Identifiers: chr6:g.49426831C>A (hg19) ; chr6:g.49459118C>A (hg38)
• PubMed: PMID:7951229

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459118C>A , CM000668.2:g.49459118C>A	GRCh38
NC_000006.11:g.49426831C>A , CM000668.1:g.49426831C>A	GRCh37
NC_000006.10:g.49534790C>A	NCBI36
NG_007100.1:g.9022G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.349G>T MANE Select	ENSP00000274813.3:p.Glu117Ter
ENST00000274813.3:c.349G>T	ENSP00000274813.3:p.Glu117Ter
NM_000255.3:c.349G>T	NP_000246.2:p.Glu117Ter
XM_005249143.2:c.349G>T	XP_005249200.1:p.Glu117Ter
XM_005249143.3:c.349G>T	XP_005249200.1:p.Glu117Ter
NM_000255.4:c.349G>T MANE Select	NP_000246.2:p.Glu117Ter