Canonical Allele Identifier: CA3847144

Gene: MMUT

Linked Data

• ClinVar Variation Id: 374213
• ClinVar RCV Id: RCV000415260 ; RCV003392232 ; RCV004022182 ; RCV002524669
• dbSNP Id: rs190834116
• ExAC: 6:49426896 G / A
• gnomAD v2: 6-49426896-G-A
• gnomAD v3: 6-49459183-G-A
• gnomAD v4: 6-49459183-G-A
• MyVariant Identifiers: chr6:g.49426896G>A (hg19) ; chr6:g.49459183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459183G>A , CM000668.2:g.49459183G>A	GRCh38
NC_000006.11:g.49426896G>A , CM000668.1:g.49426896G>A	GRCh37
NC_000006.10:g.49534855G>A	NCBI36
NG_007100.1:g.8957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.284C>T MANE Select	ENSP00000274813.3:p.Pro95Leu
ENST00000274813.3:c.284C>T	ENSP00000274813.3:p.Pro95Leu
NM_000255.3:c.284C>T	NP_000246.2:p.Pro95Leu
XM_005249143.2:c.284C>T	XP_005249200.1:p.Pro95Leu
XM_005249143.3:c.284C>T	XP_005249200.1:p.Pro95Leu
NM_000255.4:c.284C>T MANE Select	NP_000246.2:p.Pro95Leu