Canonical Allele Identifier: CA364397271
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447762T>A , CM000668.2:g.49447762T>A GRCh38
NC_000006.11:g.49415475T>A , CM000668.1:g.49415475T>A GRCh37
NC_000006.10:g.49523434T>A NCBI36
NG_007100.1:g.20378A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1468A>T MANE Select ENSP00000274813.3:p.Asn490Tyr
ENST00000274813.3:c.1468A>T ENSP00000274813.3:p.Asn490Tyr
NM_000255.3:c.1468A>T NP_000246.2:p.Asn490Tyr
XM_005249143.2:c.1468A>T XP_005249200.1:p.Asn490Tyr
XM_005249143.3:c.1468A>T XP_005249200.1:p.Asn490Tyr
NM_000255.4:c.1468A>T MANE Select NP_000246.2:p.Asn490Tyr