Canonical Allele Identifier: CA380983303

Gene: TUT1

Linked Data

• dbSNP Id: rs1941739081
• gnomAD v3: 11-62576906-C-T
• gnomAD v4: 11-62576906-C-T
• MyVariant Identifiers: chr11:g.62344378C>T (hg19) ; chr11:g.62576906C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62576906C>T , CM000673.2:g.62576906C>T	GRCh38
NC_000011.9:g.62344378C>T , CM000673.1:g.62344378C>T	GRCh37
NC_000011.8:g.62100954C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000476907.6:c.1381+1G>A MANE Select	ENSP00000419607.1:n.1381+1G>A
ENST00000308436.11:c.1495+1G>A	ENSP00000308000.7:n.1495+1G>A
ENST00000463241.2:n.246+1G>A
ENST00000469480.1:n.188G>A
ENST00000476907.5:c.1381+1G>A	ENSP00000419607.1:n.1381+1G>A
ENST00000496634.2:c.1381+1G>A	ENSP00000456163.1:n.1381+1G>A
ENST00000526409.5:n.251+1G>A
NM_022830.2:c.1495+1G>A	NP_073741.2:n.1495+1G>A
NM_001367906.1:c.1322+1G>A	NP_001354835.1:n.1322+1G>A
NM_022830.3:c.1381+1G>A MANE Select	NP_073741.3:n.1381+1G>A