Canonical Allele Identifier: CA364404561

Gene: MMUT

Linked Data

• dbSNP Id: rs2127420016
• MyVariant Identifiers: chr6:g.49425640G>A (hg19) ; chr6:g.49457927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457927G>A , CM000668.2:g.49457927G>A	GRCh38
NC_000006.11:g.49425640G>A , CM000668.1:g.49425640G>A	GRCh37
NC_000006.10:g.49533599G>A	NCBI36
NG_007100.1:g.10213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.517C>T MANE Select	ENSP00000274813.3:p.Leu173Phe
ENST00000274813.3:c.517C>T	ENSP00000274813.3:p.Leu173Phe
NM_000255.3:c.517C>T	NP_000246.2:p.Leu173Phe
XM_005249143.2:c.517C>T	XP_005249200.1:p.Leu173Phe
XM_005249143.3:c.517C>T	XP_005249200.1:p.Leu173Phe
NM_000255.4:c.517C>T MANE Select	NP_000246.2:p.Leu173Phe