Canonical Allele Identifier: CA3846849

Gene: MMUT

Linked Data

• ClinVar Variation Id: 2770996
• ClinVar RCV Id: RCV003580936
• dbSNP Id: rs749559856
• ExAC: 6:49415372 G / A
• gnomAD v3: 6-49447659-G-A
• gnomAD v4: 6-49447659-G-A
• MyVariant Identifiers: chr6:g.49415372G>A (hg19) ; chr6:g.49447659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447659G>A , CM000668.2:g.49447659G>A	GRCh38
NC_000006.11:g.49415372G>A , CM000668.1:g.49415372G>A	GRCh37
NC_000006.10:g.49523331G>A	NCBI36
NG_007100.1:g.20481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1560+11C>T MANE Select	ENSP00000274813.3:n.1560+11C>T
ENST00000274813.3:c.1560+11C>T	ENSP00000274813.3:n.1560+11C>T
NM_000255.3:c.1560+11C>T	NP_000246.2:n.1560+11C>T
XM_005249143.2:c.1560+11C>T	XP_005249200.1:n.1560+11C>T
XM_005249143.3:c.1560+11C>T	XP_005249200.1:n.1560+11C>T
NM_000255.4:c.1560+11C>T MANE Select	NP_000246.2:n.1560+11C>T