Canonical Allele Identifier: CA364404817

Gene: MMUT

Linked Data

• ClinVar Variation Id: 534566
• ClinVar RCV Id: RCV001380755 ; RCV001829801
• dbSNP Id: rs1554160743
• gnomAD v4: 6-49458050-G-A
• MyVariant Identifiers: chr6:g.49425763G>A (hg19) ; chr6:g.49458050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458050G>A , CM000668.2:g.49458050G>A	GRCh38
NC_000006.11:g.49425763G>A , CM000668.1:g.49425763G>A	GRCh37
NC_000006.10:g.49533722G>A	NCBI36
NG_007100.1:g.10090C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.394C>T MANE Select	ENSP00000274813.3:p.Gln132Ter
ENST00000274813.3:c.394C>T	ENSP00000274813.3:p.Gln132Ter
NM_000255.3:c.394C>T	NP_000246.2:p.Gln132Ter
XM_005249143.2:c.394C>T	XP_005249200.1:p.Gln132Ter
XM_005249143.3:c.394C>T	XP_005249200.1:p.Gln132Ter
NM_000255.4:c.394C>T MANE Select	NP_000246.2:p.Gln132Ter