Canonical Allele Identifier: CA364404131
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457764A>T , CM000668.2:g.49457764A>T GRCh38
NC_000006.11:g.49425477A>T , CM000668.1:g.49425477A>T GRCh37
NC_000006.10:g.49533436A>T NCBI36
NG_007100.1:g.10376T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.680T>A MANE Select ENSP00000274813.3:p.Val227Asp
ENST00000274813.3:c.680T>A ENSP00000274813.3:p.Val227Asp
NM_000255.3:c.680T>A NP_000246.2:p.Val227Asp
XM_005249143.2:c.680T>A XP_005249200.1:p.Val227Asp
XM_005249143.3:c.680T>A XP_005249200.1:p.Val227Asp
NM_000255.4:c.680T>A MANE Select NP_000246.2:p.Val227Asp