Canonical Allele Identifier: CA364404347
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457829T>A , CM000668.2:g.49457829T>A GRCh38
NC_000006.11:g.49425542T>A , CM000668.1:g.49425542T>A GRCh37
NC_000006.10:g.49533501T>A NCBI36
NG_007100.1:g.10311A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.615A>T MANE Select ENSP00000274813.3:p.Glu205Asp
ENST00000274813.3:c.615A>T ENSP00000274813.3:p.Glu205Asp
NM_000255.3:c.615A>T NP_000246.2:p.Glu205Asp
XM_005249143.2:c.615A>T XP_005249200.1:p.Glu205Asp
XM_005249143.3:c.615A>T XP_005249200.1:p.Glu205Asp
NM_000255.4:c.615A>T MANE Select NP_000246.2:p.Glu205Asp