Canonical Allele Identifier: CA364405008
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459150G>T , CM000668.2:g.49459150G>T GRCh38
NC_000006.11:g.49426863G>T , CM000668.1:g.49426863G>T GRCh37
NC_000006.10:g.49534822G>T NCBI36
NG_007100.1:g.8990C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.317C>A MANE Select ENSP00000274813.3:p.Thr106Asn
ENST00000274813.3:c.317C>A ENSP00000274813.3:p.Thr106Asn
NM_000255.3:c.317C>A NP_000246.2:p.Thr106Asn
XM_005249143.2:c.317C>A XP_005249200.1:p.Thr106Asn
XM_005249143.3:c.317C>A XP_005249200.1:p.Thr106Asn
NM_000255.4:c.317C>A MANE Select NP_000246.2:p.Thr106Asn