Canonical Allele Identifier: CA450608767

Gene: MMUT

Linked Data

• dbSNP Id: rs1767727142
• MyVariant Identifiers: chr6:g.49425467T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457754T>A , CM000668.2:g.49457754T>A	GRCh38
NC_000006.11:g.49425467T>A , CM000668.1:g.49425467T>A	GRCh37
NC_000006.10:g.49533426T>A	NCBI36
NG_007100.1:g.10386A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.690A>T MANE Select	ENSP00000274813.3:p.Thr230=
ENST00000274813.3:c.690A>T	ENSP00000274813.3:p.Thr230=
NM_000255.3:c.690A>T	NP_000246.2:p.Thr230=
XM_005249143.2:c.690A>T	XP_005249200.1:p.Thr230=
XM_005249143.3:c.690A>T	XP_005249200.1:p.Thr230=
NM_000255.4:c.690A>T MANE Select	NP_000246.2:p.Thr230=