Canonical Allele Identifier: CA3846927

Gene: MMUT

Linked Data

• dbSNP Id: rs756796362
• ExAC: 6:49419233 T / A
• gnomAD v2: 6-49419233-T-A
• gnomAD v4: 6-49451520-T-A
• MyVariant Identifiers: chr6:g.49419233T>A (hg19) ; chr6:g.49451520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451520T>A , CM000668.2:g.49451520T>A	GRCh38
NC_000006.11:g.49419233T>A , CM000668.1:g.49419233T>A	GRCh37
NC_000006.10:g.49527192T>A	NCBI36
NG_007100.1:g.16620A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1278A>T MANE Select	ENSP00000274813.3:p.Gly426=
ENST00000274813.3:c.1278A>T	ENSP00000274813.3:p.Gly426=
NM_000255.3:c.1278A>T	NP_000246.2:p.Gly426=
XM_005249143.2:c.1278A>T	XP_005249200.1:p.Gly426=
XM_005249143.3:c.1278A>T	XP_005249200.1:p.Gly426=
NM_000255.4:c.1278A>T MANE Select	NP_000246.2:p.Gly426=