Canonical Allele Identifier: CA7985616

Gene: TUFM

Linked Data

• dbSNP Id: rs773916367
• ExAC: 16:28856251 C / T
• gnomAD v2: 16-28856251-C-T
• gnomAD v3: 16-28844930-C-T
• gnomAD v4: 16-28844930-C-T
• MyVariant Identifiers: chr16:g.28856251C>T (hg19) ; chr16:g.28844930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844930C>T , CM000678.2:g.28844930C>T	GRCh38
NC_000016.9:g.28856251C>T , CM000678.1:g.28856251C>T	GRCh37
NC_000016.8:g.28763752C>T	NCBI36
NG_008964.1:g.6479G>A
NG_029706.2:g.3331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.519+21G>A MANE Select	ENSP00000322439.3:n.519+21G>A
ENST00000313511.7:c.519+21G>A	ENSP00000322439.3:n.519+21G>A
ENST00000561644.1:n.57+21G>A
ENST00000565012.1:c.*46+21G>A	ENSP00000455007.1:n.*46+21G>A
NM_003321.4:c.519+21G>A	NP_003312.3:n.519+21G>A
XM_011545928.1:c.519+21G>A	XP_011544230.1:n.519+21G>A
NM_001365360.1:c.519+21G>A	NP_001352289.1:n.519+21G>A
NM_003321.5:c.519+21G>A MANE Select	NP_003312.3:n.519+21G>A
NM_001365360.2:c.519+21G>A	NP_001352289.1:n.519+21G>A