Canonical Allele Identifier: CA3847144
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 374213
dbSNP Id: rs190834116
gnomAD v2: 6-49426896-G-A
gnomAD v3: 6-49459183-G-A
gnomAD v4: 6-49459183-G-A

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