Canonical Allele Identifier: CA364405880
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 931955
ClinVar RCV Id: RCV001198995
dbSNP Id: rs1767780776
MyVariant Identifiers: chr6:g.49427119C>A (hg19) chr6:g.49459406C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459406C>A , CM000668.2:g.49459406C>A GRCh38
NC_000006.11:g.49427119C>A , CM000668.1:g.49427119C>A GRCh37
NC_000006.10:g.49535078C>A NCBI36
NG_007100.1:g.8734G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.61G>T MANE Select ENSP00000274813.3:p.Glu21Ter
ENST00000274813.3:c.61G>T ENSP00000274813.3:p.Glu21Ter
NM_000255.3:c.61G>T NP_000246.2:p.Glu21Ter
XM_005249143.2:c.61G>T XP_005249200.1:p.Glu21Ter
XM_005249143.3:c.61G>T XP_005249200.1:p.Glu21Ter
NM_000255.4:c.61G>T MANE Select NP_000246.2:p.Glu21Ter
Search 100 bp 5'
Search 100 bp 3'