Canonical Allele Identifier: CA450606522
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49419317A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451604A>T , CM000668.2:g.49451604A>T GRCh38
NC_000006.11:g.49419317A>T , CM000668.1:g.49419317A>T GRCh37
NC_000006.10:g.49527276A>T NCBI36
NG_007100.1:g.16536T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1194T>A MANE Select ENSP00000274813.3:p.Thr398=
ENST00000274813.3:c.1194T>A ENSP00000274813.3:p.Thr398=
NM_000255.3:c.1194T>A NP_000246.2:p.Thr398=
XM_005249143.2:c.1194T>A XP_005249200.1:p.Thr398=
XM_005249143.3:c.1194T>A XP_005249200.1:p.Thr398=
NM_000255.4:c.1194T>A MANE Select NP_000246.2:p.Thr398=