Canonical Allele Identifier: CA364397180
Gene: MMUT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447720C>A , CM000668.2:g.49447720C>A GRCh38
NC_000006.11:g.49415433C>A , CM000668.1:g.49415433C>A GRCh37
NC_000006.10:g.49523392C>A NCBI36
NG_007100.1:g.20420G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1510G>T MANE Select ENSP00000274813.3:p.Ala504Ser
ENST00000274813.3:c.1510G>T ENSP00000274813.3:p.Ala504Ser
NM_000255.3:c.1510G>T NP_000246.2:p.Ala504Ser
XM_005249143.2:c.1510G>T XP_005249200.1:p.Ala504Ser
XM_005249143.3:c.1510G>T XP_005249200.1:p.Ala504Ser
NM_000255.4:c.1510G>T MANE Select NP_000246.2:p.Ala504Ser