Canonical Allele Identifier: CA364397260
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447757C>A , CM000668.2:g.49447757C>A GRCh38
NC_000006.11:g.49415470C>A , CM000668.1:g.49415470C>A GRCh37
NC_000006.10:g.49523429C>A NCBI36
NG_007100.1:g.20383G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1473G>T MANE Select ENSP00000274813.3:p.Lys491Asn
ENST00000274813.3:c.1473G>T ENSP00000274813.3:p.Lys491Asn
NM_000255.3:c.1473G>T NP_000246.2:p.Lys491Asn
XM_005249143.2:c.1473G>T XP_005249200.1:p.Lys491Asn
XM_005249143.3:c.1473G>T XP_005249200.1:p.Lys491Asn
NM_000255.4:c.1473G>T MANE Select NP_000246.2:p.Lys491Asn