Canonical Allele Identifier: CA450608789

Gene: MMUT

Linked Data

• dbSNP Id: rs1581834838
• MyVariant Identifiers: chr6:g.49425506G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457793G>A , CM000668.2:g.49457793G>A	GRCh38
NC_000006.11:g.49425506G>A , CM000668.1:g.49425506G>A	GRCh37
NC_000006.10:g.49533465G>A	NCBI36
NG_007100.1:g.10347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.651C>T MANE Select	ENSP00000274813.3:p.Ile217=
ENST00000274813.3:c.651C>T	ENSP00000274813.3:p.Ile217=
NM_000255.3:c.651C>T	NP_000246.2:p.Ile217=
XM_005249143.2:c.651C>T	XP_005249200.1:p.Ile217=
XM_005249143.3:c.651C>T	XP_005249200.1:p.Ile217=
NM_000255.4:c.651C>T MANE Select	NP_000246.2:p.Ile217=