Canonical Allele Identifier: CA364404791

Gene: MMUT

Linked Data

• gnomAD v4: 6-49458037-A-T
• MyVariant Identifiers: chr6:g.49425750A>T (hg19) ; chr6:g.49458037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458037A>T , CM000668.2:g.49458037A>T	GRCh38
NC_000006.11:g.49425750A>T , CM000668.1:g.49425750A>T	GRCh37
NC_000006.10:g.49533709A>T	NCBI36
NG_007100.1:g.10103T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.407T>A MANE Select	ENSP00000274813.3:p.Val136Asp
ENST00000274813.3:c.407T>A	ENSP00000274813.3:p.Val136Asp
NM_000255.3:c.407T>A	NP_000246.2:p.Val136Asp
XM_005249143.2:c.407T>A	XP_005249200.1:p.Val136Asp
XM_005249143.3:c.407T>A	XP_005249200.1:p.Val136Asp
NM_000255.4:c.407T>A MANE Select	NP_000246.2:p.Val136Asp