Canonical Allele Identifier: CA364404365
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457836C>T , CM000668.2:g.49457836C>T GRCh38
NC_000006.11:g.49425549C>T , CM000668.1:g.49425549C>T GRCh37
NC_000006.10:g.49533508C>T NCBI36
NG_007100.1:g.10304G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.608G>A MANE Select ENSP00000274813.3:p.Gly203Glu
ENST00000274813.3:c.608G>A ENSP00000274813.3:p.Gly203Glu
NM_000255.3:c.608G>A NP_000246.2:p.Gly203Glu
XM_005249143.2:c.608G>A XP_005249200.1:p.Gly203Glu
XM_005249143.3:c.608G>A XP_005249200.1:p.Gly203Glu
NM_000255.4:c.608G>A MANE Select NP_000246.2:p.Gly203Glu