Canonical Allele Identifier: CA450608772
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425473T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457760T>G , CM000668.2:g.49457760T>G GRCh38
NC_000006.11:g.49425473T>G , CM000668.1:g.49425473T>G GRCh37
NC_000006.10:g.49533432T>G NCBI36
NG_007100.1:g.10380A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.684A>C MANE Select ENSP00000274813.3:p.Arg228=
ENST00000274813.3:c.684A>C ENSP00000274813.3:p.Arg228=
NM_000255.3:c.684A>C NP_000246.2:p.Arg228=
XM_005249143.2:c.684A>C XP_005249200.1:p.Arg228=
XM_005249143.3:c.684A>C XP_005249200.1:p.Arg228=
NM_000255.4:c.684A>C MANE Select NP_000246.2:p.Arg228=