Canonical Allele Identifier: CA364404135
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457765C>A , CM000668.2:g.49457765C>A GRCh38
NC_000006.11:g.49425478C>A , CM000668.1:g.49425478C>A GRCh37
NC_000006.10:g.49533437C>A NCBI36
NG_007100.1:g.10375G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.679G>T MANE Select ENSP00000274813.3:p.Val227Phe
ENST00000274813.3:c.679G>T ENSP00000274813.3:p.Val227Phe
NM_000255.3:c.679G>T NP_000246.2:p.Val227Phe
XM_005249143.2:c.679G>T XP_005249200.1:p.Val227Phe
XM_005249143.3:c.679G>T XP_005249200.1:p.Val227Phe
NM_000255.4:c.679G>T MANE Select NP_000246.2:p.Val227Phe