Canonical Allele Identifier: CA450513357
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49399543A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431830A>C , CM000668.2:g.49431830A>C GRCh38
NC_000006.11:g.49399543A>C , CM000668.1:g.49399543A>C GRCh37
NC_000006.10:g.49507502A>C NCBI36
NG_007100.1:g.36310T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.2151T>G MANE Select ENSP00000274813.3:p.Gly717=
ENST00000274813.3:c.2151T>G ENSP00000274813.3:p.Gly717=
NM_000255.3:c.2151T>G NP_000246.2:p.Gly717=
XM_005249143.2:c.2151T>G XP_005249200.1:p.Gly717=
XM_005249143.3:c.2151T>G XP_005249200.1:p.Gly717=
NM_000255.4:c.2151T>G MANE Select NP_000246.2:p.Gly717=