Canonical Allele Identifier: CA364399053

Gene: MMUT

Linked Data

• dbSNP Id: rs1166666815
• gnomAD v2: 6-49419379-C-T
• gnomAD v4: 6-49451666-C-T
• MyVariant Identifiers: chr6:g.49419379C>T (hg19) ; chr6:g.49451666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451666C>T , CM000668.2:g.49451666C>T	GRCh38
NC_000006.11:g.49419379C>T , CM000668.1:g.49419379C>T	GRCh37
NC_000006.10:g.49527338C>T	NCBI36
NG_007100.1:g.16474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1132G>A MANE Select	ENSP00000274813.3:p.Val378Ile
ENST00000274813.3:c.1132G>A	ENSP00000274813.3:p.Val378Ile
NM_000255.3:c.1132G>A	NP_000246.2:p.Val378Ile
XM_005249143.2:c.1132G>A	XP_005249200.1:p.Val378Ile
XM_005249143.3:c.1132G>A	XP_005249200.1:p.Val378Ile
NM_000255.4:c.1132G>A MANE Select	NP_000246.2:p.Val378Ile