Canonical Allele Identifier: CA364398891
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451593G>T , CM000668.2:g.49451593G>T GRCh38
NC_000006.11:g.49419306G>T , CM000668.1:g.49419306G>T GRCh37
NC_000006.10:g.49527265G>T NCBI36
NG_007100.1:g.16547C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1205C>A MANE Select ENSP00000274813.3:p.Ala402Asp
ENST00000274813.3:c.1205C>A ENSP00000274813.3:p.Ala402Asp
NM_000255.3:c.1205C>A NP_000246.2:p.Ala402Asp
XM_005249143.2:c.1205C>A XP_005249200.1:p.Ala402Asp
XM_005249143.3:c.1205C>A XP_005249200.1:p.Ala402Asp
NM_000255.4:c.1205C>A MANE Select NP_000246.2:p.Ala402Asp