Canonical Allele Identifier: CA450608707

Gene: MMUT

Linked Data

• MyVariant Identifiers: chr6:g.49425755T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458042T>C , CM000668.2:g.49458042T>C	GRCh38
NC_000006.11:g.49425755T>C , CM000668.1:g.49425755T>C	GRCh37
NC_000006.10:g.49533714T>C	NCBI36
NG_007100.1:g.10098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.402A>G MANE Select	ENSP00000274813.3:p.Leu134=
ENST00000274813.3:c.402A>G	ENSP00000274813.3:p.Leu134=
NM_000255.3:c.402A>G	NP_000246.2:p.Leu134=
XM_005249143.2:c.402A>G	XP_005249200.1:p.Leu134=
XM_005249143.3:c.402A>G	XP_005249200.1:p.Leu134=
NM_000255.4:c.402A>G MANE Select	NP_000246.2:p.Leu134=