Canonical Allele Identifier: CA364404418

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1073632
• ClinVar RCV Id: RCV001386690 ; RCV002504646
• dbSNP Id: rs1254433398
• gnomAD v3: 6-49457863-G-A
• gnomAD v4: 6-49457863-G-A
• MyVariant Identifiers: chr6:g.49425576G>A (hg19) ; chr6:g.49457863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457863G>A , CM000668.2:g.49457863G>A	GRCh38
NC_000006.11:g.49425576G>A , CM000668.1:g.49425576G>A	GRCh37
NC_000006.10:g.49533535G>A	NCBI36
NG_007100.1:g.10277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.581C>T MANE Select	ENSP00000274813.3:p.Pro194Leu
ENST00000274813.3:c.581C>T	ENSP00000274813.3:p.Pro194Leu
NM_000255.3:c.581C>T	NP_000246.2:p.Pro194Leu
XM_005249143.2:c.581C>T	XP_005249200.1:p.Pro194Leu
XM_005249143.3:c.581C>T	XP_005249200.1:p.Pro194Leu
NM_000255.4:c.581C>T MANE Select	NP_000246.2:p.Pro194Leu