Canonical Allele Identifier: CA3846889

Gene: MMUT

Linked Data

• ClinVar Variation Id: 380619
• ClinVar RCV Id: RCV000435718 ; RCV000940978
• dbSNP Id: rs755553945
• ExAC: 6:49416563 T / C
• gnomAD v2: 6-49416563-T-C
• gnomAD v3: 6-49448850-T-C
• gnomAD v4: 6-49448850-T-C
• MyVariant Identifiers: chr6:g.49416563T>C (hg19) ; chr6:g.49448850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49448850T>C , CM000668.2:g.49448850T>C	GRCh38
NC_000006.11:g.49416563T>C , CM000668.1:g.49416563T>C	GRCh37
NC_000006.10:g.49524522T>C	NCBI36
NG_007100.1:g.19290A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1410A>G MANE Select	ENSP00000274813.3:p.Glu470=
ENST00000274813.3:c.1410A>G	ENSP00000274813.3:p.Glu470=
NM_000255.3:c.1410A>G	NP_000246.2:p.Glu470=
XM_005249143.2:c.1410A>G	XP_005249200.1:p.Glu470=
XM_005249143.3:c.1410A>G	XP_005249200.1:p.Glu470=
NM_000255.4:c.1410A>G MANE Select	NP_000246.2:p.Glu470=