Canonical Allele Identifier: CA7985639

Gene: TUFM

Linked Data

• ClinVar Variation Id: 318754
• ClinVar RCV Id: RCV000387592 ; RCV001550837 ; RCV004021652
• dbSNP Id: rs34283928
• ExAC: 16:28856364 C / T
• gnomAD v2: 16-28856364-C-T
• gnomAD v3: 16-28845043-C-T
• gnomAD v4: 16-28845043-C-T
• MyVariant Identifiers: chr16:g.28856364C>T (hg19) ; chr16:g.28845043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845043C>T , CM000678.2:g.28845043C>T	GRCh38
NC_000016.9:g.28856364C>T , CM000678.1:g.28856364C>T	GRCh37
NC_000016.8:g.28763865C>T	NCBI36
NG_008964.1:g.6366G>A
NG_029706.2:g.3444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.427G>A MANE Select	ENSP00000322439.3:p.Gly143Ser
ENST00000313511.7:c.427G>A	ENSP00000322439.3:p.Gly143Ser
ENST00000565012.1:c.260G>A	ENSP00000455007.1:p.Arg87Lys
NM_003321.4:c.427G>A	NP_003312.3:p.Gly143Ser
XM_011545928.1:c.427G>A	XP_011544230.1:p.Gly143Ser
NM_001365360.1:c.427G>A	NP_001352289.1:p.Gly143Ser
NM_003321.5:c.427G>A MANE Select	NP_003312.3:p.Gly143Ser
NM_001365360.2:c.427G>A	NP_001352289.1:p.Gly143Ser