Canonical Allele Identifier: CA364400750
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1406625
ClinVar RCV Id: RCV001935486
dbSNP Id: rs1085308002
MyVariant Identifiers: chr6:g.49421405T>A (hg19) chr6:g.49453692T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49453692T>A , CM000668.2:g.49453692T>A GRCh38
NC_000006.11:g.49421405T>A , CM000668.1:g.49421405T>A GRCh37
NC_000006.10:g.49529364T>A NCBI36
NG_007100.1:g.14448A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.976A>T MANE Select ENSP00000274813.3:p.Arg326Ter
ENST00000274813.3:c.976A>T ENSP00000274813.3:p.Arg326Ter
NM_000255.3:c.976A>T NP_000246.2:p.Arg326Ter
XM_005249143.2:c.976A>T XP_005249200.1:p.Arg326Ter
XM_005249143.3:c.976A>T XP_005249200.1:p.Arg326Ter
NM_000255.4:c.976A>T MANE Select NP_000246.2:p.Arg326Ter
Search 100 bp 5'
Search 100 bp 3'