Canonical Allele Identifier: CA450608767
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767727142
MyVariant Identifiers: chr6:g.49425467T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457754T>A , CM000668.2:g.49457754T>A GRCh38
NC_000006.11:g.49425467T>A , CM000668.1:g.49425467T>A GRCh37
NC_000006.10:g.49533426T>A NCBI36
NG_007100.1:g.10386A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.690A>T MANE Select ENSP00000274813.3:p.Thr230=
ENST00000274813.3:c.690A>T ENSP00000274813.3:p.Thr230=
NM_000255.3:c.690A>T NP_000246.2:p.Thr230=
XM_005249143.2:c.690A>T XP_005249200.1:p.Thr230=
XM_005249143.3:c.690A>T XP_005249200.1:p.Thr230=
NM_000255.4:c.690A>T MANE Select NP_000246.2:p.Thr230=