Canonical Allele Identifier: CA3847107

Gene: MMUT

Linked Data

• ClinVar Variation Id: 426467
• ClinVar RCV Id: RCV000489927 ; RCV000667884 ; RCV001192658 ; RCV001271720
• dbSNP Id: rs780068818
• ExAC: 6:49425703 G / A
• gnomAD v2: 6-49425703-G-A
• gnomAD v3: 6-49457990-G-A
• gnomAD v4: 6-49457990-G-A
• MyVariant Identifiers: chr6:g.49425703G>A (hg19) ; chr6:g.49457990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457990G>A , CM000668.2:g.49457990G>A	GRCh38
NC_000006.11:g.49425703G>A , CM000668.1:g.49425703G>A	GRCh37
NC_000006.10:g.49533662G>A	NCBI36
NG_007100.1:g.10150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.454C>T MANE Select	ENSP00000274813.3:p.Arg152Ter
ENST00000274813.3:c.454C>T	ENSP00000274813.3:p.Arg152Ter
NM_000255.3:c.454C>T	NP_000246.2:p.Arg152Ter
XM_005249143.2:c.454C>T	XP_005249200.1:p.Arg152Ter
XM_005249143.3:c.454C>T	XP_005249200.1:p.Arg152Ter
NM_000255.4:c.454C>T MANE Select	NP_000246.2:p.Arg152Ter