Canonical Allele Identifier: CA7985611

Gene: TUFM

Linked Data

• dbSNP Id: rs370706111
• ExAC: 16:28856225 C / T
• gnomAD v2: 16-28856225-C-T
• MyVariant Identifiers: chr16:g.28856225C>T (hg19) ; chr16:g.28844904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844904C>T , CM000678.2:g.28844904C>T	GRCh38
NC_000016.9:g.28856225C>T , CM000678.1:g.28856225C>T	GRCh37
NC_000016.8:g.28763726C>T	NCBI36
NG_008964.1:g.6505G>A
NG_029706.2:g.3305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.520-42G>A MANE Select	ENSP00000322439.3:n.520-42G>A
ENST00000313511.7:c.520-42G>A	ENSP00000322439.3:n.520-42G>A
ENST00000561644.1:n.58-42G>A
ENST00000565012.1:c.*47-42G>A	ENSP00000455007.1:n.*47-42G>A
NM_003321.4:c.520-42G>A	NP_003312.3:n.520-42G>A
XM_011545928.1:c.520-42G>A	XP_011544230.1:n.520-42G>A
NM_001365360.1:c.520-42G>A	NP_001352289.1:n.520-42G>A
NM_003321.5:c.520-42G>A MANE Select	NP_003312.3:n.520-42G>A
NM_001365360.2:c.520-42G>A	NP_001352289.1:n.520-42G>A