Canonical Allele Identifier: CA3846956

Gene: MMUT

Linked Data

• ClinVar Variation Id: 290030
• ClinVar RCV Id: RCV000706536 ; RCV000726418 ; RCV001276752
• dbSNP Id: rs150968643
• ExAC: 6:49419396 A / G
• gnomAD v2: 6-49419396-A-G
• gnomAD v3: 6-49451683-A-G
• gnomAD v4: 6-49451683-A-G
• MyVariant Identifiers: chr6:g.49419396A>G (hg19) ; chr6:g.49419396_49419419delinsGTTGCAGTACGGACAATATTATTG (hg19) ; chr6:g.49451683A>G (hg38) ; chr6:g.49451683_49451706delinsGTTGCAGTACGGACAATATTATTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451683A>G , CM000668.2:g.49451683A>G	GRCh38
NC_000006.11:g.49419396A>G , CM000668.1:g.49419396A>G	GRCh37
NC_000006.10:g.49527355A>G	NCBI36
NG_007100.1:g.16457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1115T>C MANE Select	ENSP00000274813.3:p.Ile372Thr
ENST00000274813.3:c.1115T>C	ENSP00000274813.3:p.Ile372Thr
NM_000255.3:c.1115T>C	NP_000246.2:p.Ile372Thr
XM_005249143.2:c.1115T>C	XP_005249200.1:p.Ile372Thr
XM_005249143.3:c.1115T>C	XP_005249200.1:p.Ile372Thr
NM_000255.4:c.1115T>C MANE Select	NP_000246.2:p.Ile372Thr