Canonical Allele Identifier: CA450608982
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2803355
ClinVar RCV Id: RCV003681460
MyVariant Identifiers: chr6:g.49427129C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459416C>T , CM000668.2:g.49459416C>T GRCh38
NC_000006.11:g.49427129C>T , CM000668.1:g.49427129C>T GRCh37
NC_000006.10:g.49535088C>T NCBI36
NG_007100.1:g.8724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.51G>A MANE Select ENSP00000274813.3:p.Arg17=
ENST00000274813.3:c.51G>A ENSP00000274813.3:p.Arg17=
NM_000255.3:c.51G>A NP_000246.2:p.Arg17=
XM_005249143.2:c.51G>A XP_005249200.1:p.Arg17=
XM_005249143.3:c.51G>A XP_005249200.1:p.Arg17=
NM_000255.4:c.51G>A MANE Select NP_000246.2:p.Arg17=
Search 100 bp 5'
Search 100 bp 3'