Canonical Allele Identifier: CA364404855
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1265485739

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459084T>G , CM000668.2:g.49459084T>G GRCh38
NC_000006.11:g.49426797T>G , CM000668.1:g.49426797T>G GRCh37
NC_000006.10:g.49534756T>G NCBI36
NG_007100.1:g.9056A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.383A>C MANE Select ENSP00000274813.3:p.Lys128Thr
ENST00000274813.3:c.383A>C ENSP00000274813.3:p.Lys128Thr
NM_000255.3:c.383A>C NP_000246.2:p.Lys128Thr
XM_005249143.2:c.383A>C XP_005249200.1:p.Lys128Thr
XM_005249143.3:c.383A>C XP_005249200.1:p.Lys128Thr
NM_000255.4:c.383A>C MANE Select NP_000246.2:p.Lys128Thr